E53K (p.Glu53Lys) variant of ID3 (Q02535)
E53K (p.Glu53Lys) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
E53K (p.Glu53Lys) variant details
- p.Glu53Lys
- Ensembl rs2124330324
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.71
- MetaLR 0.93
- MetaSVM 1.02
- CADD 28.30
- PolyPhen-2 0.66
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available