N28H (p.Asn28His) variant of KCNMA1 (Q12791)
N28H (p.Asn28His) 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.
N28H (p.Asn28His) variant details
- p.Asn28His
- TOPMed rs2093893394
- gnomAD rs2093893394
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.28
- CADD 26.50
- PolyPhen-2 0.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)