G27V (p.Gly27Val) variant of ID3 (Q02535)
G27V (p.Gly27Val) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and published literature.
G27V (p.Gly27Val) variant details
- p.Gly27Val
- gnomAD 1-23559347-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- MetaLR 0.20
- MetaSVM -0.79
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Literature evidence available