A7V (p.Ala7Val) variant of LHCGR (P22888)
A7V (p.Ala7Val) in LHCGR (P22888) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- cosmic curated COSV54292
- gnomAD rs1341588504
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.15
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available