S49Y (p.Ser49Tyr) variant of ID3 (Q02535)
S49Y (p.Ser49Tyr) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
S49Y (p.Ser49Tyr) variant details
- p.Ser49Tyr
- ESP rs374890938
- ExAC rs374890938
- TOPMed rs374890938
- gnomAD rs374890938
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.94
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available