Q36V (p.Gln36Val) variant of CHD2 (O14647)
Q36V (p.Gln36Val) in CHD2 (O14647) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q36V (p.Gln36Val) variant details
- p.Gln36Val
- rs1271026888
- gnomAD 15-92904976-TTC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.205
- CADD 11.70
- Most common in the Latino/Admixed American population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available