S57F (p.Ser57Phe) variant of KCNMA1 (Q12791)
S57F (p.Ser57Phe) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S57F (p.Ser57Phe) variant details
- p.Ser57Phe
- TOPMed rs1394425026
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.11
- CADD 25.20
- PolyPhen-2 0.88
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)