N28S (p.Asn28Ser) variant of KCNMA1 (Q12791)
N28S (p.Asn28Ser) 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.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- Ensembl rs2093893223
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.23
- CADD 23.40
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)