A106V (p.Ala106Val) variant of CACNA1A (O00555)
A106V (p.Ala106Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A106V (p.Ala106Val) variant details
- p.Ala106Val
- rs761374169
- ClinVar RCV004592221
- TOPMed rs761374169
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.88
- CADD 25.40
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available