S12N (p.Ser12Asn) variant of KCNMA1 (Q12791)
S12N (p.Ser12Asn) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- 1000Genomes rs553253349
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.005)