G21R (p.Gly21Arg) variant of GHR (Growth hormone receptor)
G21R (p.Gly21Arg) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs769835036
- ClinGen CA3254289
- cosmic curated COSV50117
- ClinVar RCV003828869
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.22
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.0017)
- Structural context available