L29V (p.Leu29Val) variant of GHR (Growth hormone receptor)
L29V (p.Leu29Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L29V (p.Leu29Val) variant details
- p.Leu29Val
- Ensembl rs1324187200
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.09
- CADD 16.70
- PolyPhen-2 0.04
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 6.4e-05)
- Structural context available