R31K (p.Arg31Lys) variant of GHR (Growth hormone receptor)
R31K (p.Arg31Lys) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R31K (p.Arg31Lys) variant details
- p.Arg31Lys
- ExAC rs779840197
- gnomAD rs779840197
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 8.46
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available