H33R (p.His33Arg) variant of KCNMA1 (Q12791)
H33R (p.His33Arg) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
H33R (p.His33Arg) variant details
- p.His33Arg
- gnomAD rs2093891257
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.26
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)