G34L (p.Gly34Leu) variant of CHD2 (O14647)
G34L (p.Gly34Leu) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G34L (p.Gly34Leu) variant details
- p.Gly34Leu
- gnomAD 15-92901330-C-CTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 12.60
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available