P4Q (p.Pro4Gln) variant of CHD7 (Q9P2D1)
P4Q (p.Pro4Gln) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P4Q (p.Pro4Gln) variant details
- p.Pro4Gln
- gnomAD 8-60741443-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.43
- MetaLR 0.61
- MetaSVM 0.27
- CADD 24.60
- PolyPhen-2 0.80
- SIFT 0.05
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.286
- Literature evidence available