L43V (p.Leu43Val) variant of GHR (Growth hormone receptor)
L43V (p.Leu43Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- ExAC rs761015692
- gnomAD rs761015692
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.16
- CADD 16.80
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available