CASR p.Arg795fs
c.2383del · rs2107650417 · VCV1697471
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (7 of 7) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CASR
- Protein
- p.Arg795fs
- Coding
- c.2383del
- MANE Select
- NM_000388
- dbSNP
- rs2107650417
- Type
- Deletion
- Location
- chr3:122284335 (GRCh38)
- Gene constraint
- LOEUF 0.469 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 76.01 · 31 PDB
- Residue 795
- a UniProt-annotated variant site (in hhc1; impaired homodimerization; impaired cell membrane localization); a UniProt-annotated variant site (in hhc1; decreased g protein-coupled receptor signaling pathway); the 'intracellular loop 3 (icl3)' region; a turn
Similar variants
- CASR p.Arg795Trp Pathogenic/Likely pathogenic ★★ same residue
- CASR p.Arg795Gln Uncertain significance ★ ⚠ same residue
- CASR p.Arg795Gly Uncertain significance ★ ⚠ same residue
- CASR p.Arg795Leu Uncertain significance ★ ⚠ same residue
- CASR p.Arg795Pro Uncertain significance ★ ⚠ same residue
- CASR p.Arg795= Likely benign ★ same residue
- CASR p.Arg185fs Pathogenic/Likely pathogenic ★★ same type
- CASR p.Glu56fs Pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/casr-p-arg795fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown