P4L (p.Pro4Leu) variant of CHD7 (Q9P2D1)
P4L (p.Pro4Leu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P4L (p.Pro4Leu) variant details
- p.Pro4Leu
- ESP rs370099061
- ExAC rs370099061
- TOPMed rs370099061
- gnomAD rs370099061
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.44
- MetaLR 0.45
- MetaSVM -0.06
- CADD 23.50
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.286