P41S (p.Pro41Ser) variant of GHR (Growth hormone receptor)
P41S (p.Pro41Ser) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P41S (p.Pro41Ser) variant details
- p.Pro41Ser
- Ensembl rs1753835556
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.19
- CADD 17.70
- PolyPhen-2 0.07
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available