A27V (p.Ala27Val) variant of GHR (Growth hormone receptor)
A27V (p.Ala27Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 5-42629047-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available