S94F (p.Ser94Phe) variant of KCNMA1 (Q12791)
S94F (p.Ser94Phe) 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 0.55 / 1. The record also includes population frequency data.
S94F (p.Ser94Phe) variant details
- p.Ser94Phe
- cosmic curated COSV10582
- NCI-TCGA Cosmic COSV9969
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.36
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)