T25A (p.Thr25Ala) variant of GHR (Growth hormone receptor)
T25A (p.Thr25Ala) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
T25A (p.Thr25Ala) variant details
- p.Thr25Ala
- ESP rs373055838
- ExAC rs373055838
- gnomAD rs373055838
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.18
- CADD 9.83
- PolyPhen-2 0.04
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available