P64R (p.Pro64Arg) variant of KCNMA1 (Q12791)
P64R (p.Pro64Arg) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data.
P64R (p.Pro64Arg) variant details
- p.Pro64Arg
- gnomAD rs1207714308
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.12
- CADD 24.80
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)