W34C (p.Trp34Cys) variant of GHR (Growth hormone receptor)
W34C (p.Trp34Cys) in GHR (Growth hormone receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
W34C (p.Trp34Cys) variant details
- p.Trp34Cys
- cosmic curated COSV10608
- TOPMed rs121909370
- gnomAD rs121909370
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.17
- CADD 17.30
- PolyPhen-2 0.08
- SIFT 0.19
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 8e-05)
- Structural context available