V5G (p.Val5Gly) variant of CYP17A1 (P05093)
V5G (p.Val5Gly) in CYP17A1 (P05093) 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 0.31 / 1. The record also includes population frequency data and structural context.
V5G (p.Val5Gly) variant details
- p.Val5Gly
- TOPMed rs886171252
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.32
- CADD 18.00
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-05)
- Structural context available