P45L (p.Pro45Leu) variant of CHD2 (O14647)
P45L (p.Pro45Leu) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P45L (p.Pro45Leu) variant details
- p.Pro45Leu
- rs779987344
- gnomAD 15-92904948-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 10.70
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available