K124R (p.Lys124Arg) variant of KCNMA1 (Q12791)
K124R (p.Lys124Arg) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
K124R (p.Lys124Arg) variant details
- p.Lys124Arg
- ExAC rs750826732
- gnomAD rs750826732
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.29
- CADD 23.40
- PolyPhen-2 0.08
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)