P36L (p.Pro36Leu) variant of CHD7 (Q9P2D1)
P36L (p.Pro36Leu) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P36L (p.Pro36Leu) variant details
- p.Pro36Leu
- gnomAD 8-60741539-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.07
- MetaLR 0.19
- MetaSVM -0.84
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.596
- Literature evidence available