E53Q (p.Glu53Gln) variant of ID3 (Q02535)
E53Q (p.Glu53Gln) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E53Q (p.Glu53Gln) variant details
- p.Glu53Gln
- Ensembl rs2124330324
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.55
- MetaLR 0.90
- MetaSVM 1.00
- CADD 26.10
- PolyPhen-2 0.53
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available