R28G (p.Arg28Gly) variant of ID3 (Q02535)
R28G (p.Arg28Gly) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
R28G (p.Arg28Gly) variant details
- p.Arg28Gly
- gnomAD 1-23559345-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.12
- MetaLR 0.12
- MetaSVM -0.96
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available