S49F (p.Ser49Phe) variant of KCNMA1 (Q12791)
S49F (p.Ser49Phe) in KCNMA1 (Q12791) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.10
- CADD 24.50
- PolyPhen-2 0.14
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)