M19T (p.Met19Thr) variant of WRN (Q14191)
M19T (p.Met19Thr) in WRN (Q14191) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
M19T (p.Met19Thr) variant details
- p.Met19Thr
- gnomAD 8-31058503-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available