T125A (p.Thr125Ala) variant of KCNMA1 (Q12791)
T125A (p.Thr125Ala) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
T125A (p.Thr125Ala) variant details
- p.Thr125Ala
- ExAC rs779419680
- gnomAD rs779419680
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.04
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 9e-07)