L5V (p.Leu5Val) variant of FH (P07954)
L5V (p.Leu5Val) 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 structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs1553342165
- ClinGen CA345443090
- ClinVar RCV002563802
- Ensembl rs1553342165
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.08
- MetaLR 0.87
- MetaSVM 0.79
- PolyPhen-2 0.00
- SIFT 0.45
- MutPred 0.22
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available