A27T (p.Ala27Thr) variant of GHR (Growth hormone receptor)
A27T (p.Ala27Thr) 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.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD rs1294606823
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available