S30R (p.Ser30Arg) variant of GHR (Growth hormone receptor)
S30R (p.Ser30Arg) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- gnomAD 5-42629057-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.26
- CADD 11.00
- PolyPhen-2 0.04
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available