L6V (p.Leu6Val) variant of GHR (Growth hormone receptor)
L6V (p.Leu6Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- ExAC rs750933471
- gnomAD rs750933471
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- CADD 18.80
- PolyPhen-2 0.06
- SIFT 0.16
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available