I16F (p.Ile16Phe) variant of CHD7 (Q9P2D1)
I16F (p.Ile16Phe) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I16F (p.Ile16Phe) variant details
- p.Ile16Phe
- gnomAD 8-60741478-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -0.86
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.173
- Literature evidence available