A118V (p.Ala118Val) variant of LHCGR (P22888)
A118V (p.Ala118Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Leydig cell agenesis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
A118V (p.Ala118Val) variant details
- p.Ala118Val
- rs200591881
- ClinGen CA346759479
- ClinVar RCV001823541
- 1000Genomes rs200591881
- Uncertain significance
- Leydig cell agenesis
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- AlphaMissense 0.96
- MetaLR 0.92
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Uncertain significance (Leydig cell agenesis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available