S47C (p.Ser47Cys) variant of GHR (Growth hormone receptor)
S47C (p.Ser47Cys) 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 0.53 / 1. The record also includes population frequency data and structural context.
S47C (p.Ser47Cys) variant details
- p.Ser47Cys
- rs777008477
- ClinGen CA3254340
- ClinVar RCV003703358
- ExAC rs777008477
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.41
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available