I16V (p.Ile16Val) variant of CHD7 (Q9P2D1)
I16V (p.Ile16Val) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I16V (p.Ile16Val) variant details
- p.Ile16Val
- gnomAD rs867440888
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -0.94
- CADD 20.80
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.173