V15A (p.Val15Ala) variant of FH (P07954)
V15A (p.Val15Ala) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
V15A (p.Val15Ala) variant details
- p.Val15Ala
- rs1660322018
- ClinGen CA345442967
- ClinVar RCV001204220
- ClinVar RCV002561147
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- AlphaMissense 0.07
- MetaLR 0.88
- MetaSVM 0.73
- PolyPhen-2 0.00
- SIFT 0.40
- MutPred 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)