P45S (p.Pro45Ser) variant of CHD2 (O14647)
P45S (p.Pro45Ser) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P45S (p.Pro45Ser) variant details
- p.Pro45Ser
- rs2052526879
- gnomAD 15-92901370-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 19.40
- Most common in the REMAINING population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available