E35A (p.Glu35Ala) variant of ID3 (Q02535)
E35A (p.Glu35Ala) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
E35A (p.Glu35Ala) variant details
- p.Glu35Ala
- gnomAD 1-23559323-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.63
- MetaLR 0.47
- MetaSVM -0.09
- CADD 24.90
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available