R52W (p.Arg52Trp) variant of ID3 (Q02535)
R52W (p.Arg52Trp) 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, published literature, and structural context.
R52W (p.Arg52Trp) variant details
- p.Arg52Trp
- gnomAD 1-23559273-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.78
- MetaLR 0.97
- MetaSVM 1.10
- CADD 28.80
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available