S45T (p.Ser45Thr) variant of KCNMA1 (Q12791)
S45T (p.Ser45Thr) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- Ensembl rs2093887070
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.06
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available