G23V (p.Gly23Val) variant of CHD7 (Q9P2D1)
G23V (p.Gly23Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- gnomAD rs1276525542
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.18
- MetaLR 0.11
- MetaSVM -0.95
- CADD 22.50
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -1.1