CSRP3 p.Lys42fs
c.122_123dup · rs886041190 · VCV279792
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 6 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 6.8, 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
- CSRP3
- Protein
- p.Lys42fs
- Coding
- c.122_123dup
- MANE Select
- NM_003476
- dbSNP
- rs886041190
- Type
- Duplication
- Location
- chr11:19188293 (GRCh38)
- Gene constraint
- LOEUF 1.307 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 73.91 · 2 PDB
- Residue 42
- the lim zinc-binding 1 domain; an α-helix
Similar variants
- CSRP3 p.Lys42= Likely benign ★ same residue
- CSRP3 p.Ile149fs Pathogenic ★ same type
- CSRP3 p.Asn175fs Uncertain significance ★ same type
- CSRP3 p.Lys162fs Uncertain significance ★ same type
- CSRP3 c.508+9_508+15dup Likely benign ★ 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/csrp3-p-lys42fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown