Q129R (p.Gln129Arg) variant of KCNMA1 (Q12791)
Q129R (p.Gln129Arg) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
Q129R (p.Gln129Arg) variant details
- p.Gln129Arg
- ExAC rs763787979
- gnomAD rs763787979
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.10
- CADD 21.90
- PolyPhen-2 0.04
- SIFT 0.44
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)