P41T (p.Pro41Thr) variant of GHR (Growth hormone receptor)
P41T (p.Pro41Thr) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P41T (p.Pro41Thr) variant details
- p.Pro41Thr
- gnomAD 5-42629088-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available