G27D (p.Gly27Asp) variant of ID3 (Q02535)
G27D (p.Gly27Asp) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and published literature.
G27D (p.Gly27Asp) variant details
- p.Gly27Asp
- gnomAD 1-23559347-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.21
- MetaLR 0.25
- MetaSVM -0.80
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available