D43H (p.Asp43His) variant of ID3 (Q02535)
D43H (p.Asp43His) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D43H (p.Asp43His) variant details
- p.Asp43His
- gnomAD 1-23559300-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.80
- MetaLR 0.96
- MetaSVM 1.10
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available