P45T (p.Pro45Thr) variant of CHD2 (O14647)
P45T (p.Pro45Thr) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P45T (p.Pro45Thr) variant details
- p.Pro45Thr
- Ensembl rs962845044
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- CADD 18.90
- Population evidence available
- Structural context available