A26S (p.Ala26Ser) variant of GHR (Growth hormone receptor)
A26S (p.Ala26Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A26S (p.Ala26Ser) variant details
- p.Ala26Ser
- ExAC rs756925109
- gnomAD rs756925109
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.17
- CADD 5.73
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available