V34I (p.Val34Ile) variant of CHD7 (Q9P2D1)
V34I (p.Val34Ile) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V34I (p.Val34Ile) variant details
- p.Val34Ile
- TOPMed rs1023797858
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -0.73
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.251