P42L (p.Pro42Leu) variant of CHD7 (Q9P2D1)
P42L (p.Pro42Leu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- gnomAD 8-60741557-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.82
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.0267
- Literature evidence available