A38E (p.Ala38Glu) variant of KCNMA1 (Q12791)
A38E (p.Ala38Glu) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data.
A38E (p.Ala38Glu) variant details
- p.Ala38Glu
- ESP rs375403667
- ExAC rs375403667
- TOPMed rs375403667
- gnomAD rs375403667
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.41
- CADD 24.20
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)