A3T (p.Ala3Thr) variant of ZRSR2 (Q15696)
A3T (p.Ala3Thr) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A3T (p.Ala3Thr) variant details
- p.Ala3Thr
- gnomAD X-15790502-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.01
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available