G27A (p.Gly27Ala) variant of ID3 (Q02535)
G27A (p.Gly27Ala) in ID3 (Q02535) is a protein-truncating 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.
G27A (p.Gly27Ala) variant details
- p.Gly27Ala
- gnomAD 1-23559346-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 26.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available