A2T (p.Ala2Thr) variant of ZRSR2 (Q15696)
A2T (p.Ala2Thr) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- gnomAD X-15790499-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available