G8S (p.Gly8Ser) variant of KCNMA1 (Q12791)
G8S (p.Gly8Ser) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- TOPMed rs988282616
- gnomAD rs988282616
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- CADD 24.10
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.5e-05)