M49T (p.Met49Thr) variant of CYP17A1 (P05093)
M49T (p.Met49Thr) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
M49T (p.Met49Thr) variant details
- p.Met49Thr
- gnomAD rs1431588115
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.23
- CADD 0.84
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available