Q36K (p.Gln36Lys) variant of CHD2 (O14647)
Q36K (p.Gln36Lys) in CHD2 (O14647) 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, published literature, and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- gnomAD 15-92904980-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 11.30
- SIFT 0.75
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available