I131T (p.Ile131Thr) variant of KCNMA1 (Q12791)
I131T (p.Ile131Thr) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
I131T (p.Ile131Thr) variant details
- p.Ile131Thr
- Ensembl rs957532714
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- CADD 21.30
- PolyPhen-2 0.04
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)