A25S (p.Ala25Ser) variant of FH (P07954)
A25S (p.Ala25Ser) in FH (P07954) 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 0.41 / 1. The record also includes population frequency data and structural context.
A25S (p.Ala25Ser) variant details
- p.Ala25Ser
- NCI-TCGA Cosmic COSV6381
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.40
- CADD 5.63
- PolyPhen-2 0.01
- SIFT 0.47
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available