G71R (p.Gly71Arg) variant of LHCGR (P22888)
G71R (p.Gly71Arg) in LHCGR (P22888) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- ExAC rs746197082
- TOPMed rs746197082
- gnomAD rs746197082
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.67
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available