A11S (p.Ala11Ser) variant of GHR (Growth hormone receptor)
A11S (p.Ala11Ser) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A11S (p.Ala11Ser) variant details
- p.Ala11Ser
- ESP rs369651256
- ExAC rs369651256
- TOPMed rs369651256
- gnomAD rs369651256
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.52
- CADD 24.80
- PolyPhen-2 0.75
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available