S39F (p.Ser39Phe) variant of KCNMA1 (Q12791)
S39F (p.Ser39Phe) in KCNMA1 (Q12791) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S39F (p.Ser39Phe) variant details
- p.Ser39Phe
- gnomAD rs1282366675
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.39
- CADD 24.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.1e-05)