A10S (p.Ala10Ser) variant of CACNA1A (O00555)
A10S (p.Ala10Ser) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- TOPMed rs1326483165
- gnomAD rs1326483165
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.23
- MetaLR 0.61
- MetaSVM -0.10
- CADD 19.40
- PolyPhen-2 0.24
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available