D43N (p.Asp43Asn) variant of ID3 (Q02535)
D43N (p.Asp43Asn) in ID3 (Q02535) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs764719782
- ClinGen CA683663
- ClinVar RCV004224300
- ExAC rs764719782
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.44
- MetaLR 0.85
- MetaSVM 0.76
- CADD 23.10
- PolyPhen-2 0.42
- SIFT 0.54
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00023)
- Structural context available