A3S (p.Ala3Ser) variant of ZRSR2 (Q15696)
A3S (p.Ala3Ser) 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.
A3S (p.Ala3Ser) variant details
- p.Ala3Ser
- gnomAD X-15790502-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.00
- CADD 11.50
- PolyPhen-2 0.01
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available