A18V (p.Ala18Val) variant of GHR (Growth hormone receptor)
A18V (p.Ala18Val) in GHR (Growth hormone receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 0.16
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available