R43H (p.Arg43His) variant of LHCGR (P22888)
R43H (p.Arg43His) 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 0.40 / 1. The record also includes population frequency data and structural context.
R43H (p.Arg43His) variant details
- p.Arg43His
- NCI-TCGA Cosmic COSV5429
- cosmic curated COSV54298
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.34
- CADD 26.60
- PolyPhen-2 0.59
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available