M68L (p.Met68Leu) variant of CYP17A1 (P05093)
M68L (p.Met68Leu) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
M68L (p.Met68Leu) variant details
- p.Met68Leu
- ExAC rs752052614
- gnomAD rs752052614
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.13
- CADD 0.02
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available