A38V (p.Ala38Val) variant of KCNMA1 (Q12791)
A38V (p.Ala38Val) in KCNMA1 (Q12791) 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.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- cosmic curated COSV10514
- ESP rs375403667
- ExAC rs375403667
- TOPMed rs375403667
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.33
- CADD 24.50
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)