V5M (p.Val5Met) variant of CYP17A1 (P05093)
V5M (p.Val5Met) in CYP17A1 (P05093) 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.
V5M (p.Val5Met) variant details
- p.Val5Met
- ExAC rs749456949
- TOPMed rs749456949
- gnomAD rs749456949
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.17
- CADD 7.42
- PolyPhen-2 0.19
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available