R82Q (p.Arg82Gln) variant of KCNMA1 (Q12791)
R82Q (p.Arg82Gln) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
R82Q (p.Arg82Gln) variant details
- p.Arg82Gln
- TOPMed rs1361269831
- gnomAD rs1361269831
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)