CACNA1F p.Pro197fs
c.584dup · rs1557111077 · VCV1455476
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 5 of 48 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -3.4 | GERP -3.6 |
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
- CACNA1F
- Protein
- p.Pro197fs
- Coding
- c.584dup
- MANE Select
- NM_001256789
- dbSNP
- rs1557111077
- Type
- Duplication
- Location
- chrX:49230546 (GRCh38)
- Structure
- AlphaFold pLDDT 67.46
Similar variants
- CACNA1F p.Leu1045fs Pathogenic ★★ same type
- CACNA1F c.2387-27dup Benign/Likely benign ★★ same type
- CACNA1F p.Ala1004fs Pathogenic ★ same type
- CACNA1F p.Arg1160fs Pathogenic ★ same type
- CACNA1F p.Asn1733fs Pathogenic ★ same type
- CACNA1F p.Asp387fs Likely pathogenic ★ same type
- CACNA1F p.Gln1199fs Likely pathogenic ★ same type
- CACNA1F p.Glu378fs 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/cacna1f-p-pro197fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown