F194V (p.Phe194Val) variant of LHCGR (P22888)
F194V (p.Phe194Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pseudohermaphroditism. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes population frequency data and structural context.
F194V (p.Phe194Val) variant details
- p.Phe194Val
- rs750481017
- ClinGen CA1653265
- ClinVar RCV000583426
- ExAC rs750481017
- Pathogenic
- Pseudohermaphroditism
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.90
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic (Pseudohermaphroditism)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available