A2V (p.Ala2Val) variant of ZRSR2 (Q15696)
A2V (p.Ala2Val) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD X-15790500-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.05
- CADD 23.20
- PolyPhen-2 0.08
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available