M129T (p.Met129Thr) variant of CYP17A1 (P05093)
M129T (p.Met129Thr) in CYP17A1 (P05093) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
M129T (p.Met129Thr) variant details
- p.Met129Thr
- TOPMed rs1261887197
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.15
- CADD 12.80
- PolyPhen-2 0.18
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available