G14R (p.Gly14Arg) variant of GHR (Growth hormone receptor)
G14R (p.Gly14Arg) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- rs372245866
- ClinGen CA3254285
- cosmic curated COSV50108
- ClinVar RCV002948992
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.30
- CADD 23.20
- PolyPhen-2 0.56
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available