S45F (p.Ser45Phe) variant of KCNMA1 (Q12791)
S45F (p.Ser45Phe) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data.
S45F (p.Ser45Phe) variant details
- p.Ser45Phe
- gnomAD rs1429334349
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.04
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)