K112R (p.Lys112Arg) variant of KCNMA1 (Q12791)
K112R (p.Lys112Arg) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
K112R (p.Lys112Arg) variant details
- p.Lys112Arg
- gnomAD rs1430426336
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 24.60
- PolyPhen-2 0.19
- SIFT 0.47
- Most common in the South Asian population (allele frequency 1.2e-05)