L14V (p.Leu14Val) variant of FH (P07954)
L14V (p.Leu14Val) 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.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- rs981562354
- ClinGen CA345442984
- ClinVar RCV003719038
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- AlphaMissense 0.08
- MetaLR 0.88
- MetaSVM 0.71
- PolyPhen-2 0.00
- SIFT 0.18
- MutPred 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available