A32V (p.Ala32Val) variant of GHR (Growth hormone receptor)
A32V (p.Ala32Val) in GHR (Growth hormone receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A32V (p.Ala32Val) variant details
- p.Ala32Val
- TOPMed rs759746207
- gnomAD rs759746207
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.21
- CADD 4.14
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 5.6e-05)
- Structural context available