R24K (p.Arg24Lys) variant of KCNMA1 (Q12791)
R24K (p.Arg24Lys) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- gnomAD rs1302403980
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)