W34L (p.Trp34Leu) variant of GHR (Growth hormone receptor)
W34L (p.Trp34Leu) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
W34L (p.Trp34Leu) variant details
- p.Trp34Leu
- gnomAD 5-42629068-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- CADD 3.71
- PolyPhen-2 0.00
- SIFT 0.75
- Population evidence available
- Structural context available
- Literature evidence available