A110V (p.Ala110Val) variant of CACNA1A (O00555)
A110V (p.Ala110Val) 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 0.53 / 1. The record also includes population frequency data and structural context.
A110V (p.Ala110Val) variant details
- p.Ala110Val
- rs1085307798
- ClinGen CA404967891
- cosmic curated COSV64203
- ClinVar RCV000489790
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.39
- MetaLR 0.37
- MetaSVM -0.24
- CADD 28.90
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available