S14C (p.Ser14Cys) variant of ZRSR2 (Q15696)
S14C (p.Ser14Cys) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- gnomAD X-15790535-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -0.96
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available