A26E (p.Ala26Glu) variant of GHR (Growth hormone receptor)
A26E (p.Ala26Glu) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- gnomAD rs1305179629
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.31
- CADD 15.50
- PolyPhen-2 0.03
- SIFT 0.17
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available