A44V (p.Ala44Val) variant of CACNA1A (O00555)
A44V (p.Ala44Val) in CACNA1A (O00555) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A44V (p.Ala44Val) variant details
- p.Ala44Val
- cosmic curated COSV64199
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.33
- MetaLR 0.75
- MetaSVM 0.09
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available