G118D (p.Gly118Asp) variant of CYP17A1 (P05093)
G118D (p.Gly118Asp) in CYP17A1 (P05093) is a missense change. 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.
G118D (p.Gly118Asp) variant details
- p.Gly118Asp
- cosmic curated COSV10820
- ExAC rs768546290
- TOPMed rs768546290
- gnomAD rs768546290
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.51
- CADD 15.40
- PolyPhen-2 0.33
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available