A42V (p.Ala42Val) variant of FH (P07954)
A42V (p.Ala42Val) 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 0.66 / 1. The record also includes structural context.
A42V (p.Ala42Val) variant details
- p.Ala42Val
- rs1194980336
- ClinGen CA345442627
- ClinVar RCV003103968
- gnomAD rs1194980336
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.10
- MetaLR 0.89
- MetaSVM 0.86
- PolyPhen-2 0.00
- SIFT 0.38
- MutPred 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available