R53Q (p.Arg53Gln) variant of LHCGR (P22888)
R53Q (p.Arg53Gln) in LHCGR (P22888) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54293
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.47
- CADD 23.40
- PolyPhen-2 0.69
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available