H120Q (p.His120Gln) variant of KCNMA1 (Q12791)
H120Q (p.His120Gln) 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.
H120Q (p.His120Gln) variant details
- p.His120Gln
- ESP rs147098205
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.19
- CADD 23.10
- PolyPhen-2 0.15
- SIFT 0.72
- Most common in the East Asian population (allele frequency 2.5e-05)