D2V (p.Asp2Val) variant of GHR (Growth hormone receptor)
D2V (p.Asp2Val) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D2V (p.Asp2Val) variant details
- p.Asp2Val
- gnomAD rs1336478651
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.53
- CADD 25.90
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.6e-05)
- Structural context available