H46Y (p.His46Tyr) variant of ID3 (Q02535)
H46Y (p.His46Tyr) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
H46Y (p.His46Tyr) variant details
- p.His46Tyr
- TOPMed rs1170761791
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.49
- MetaLR 0.83
- MetaSVM 0.77
- CADD 24.60
- PolyPhen-2 0.31
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available