F10Y (p.Phe10Tyr) variant of CHD7 (Q9P2D1)
F10Y (p.Phe10Tyr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
F10Y (p.Phe10Tyr) variant details
- p.Phe10Tyr
- gnomAD 8-60741461-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.25
- MetaLR 0.43
- MetaSVM -0.12
- CADD 26.10
- PolyPhen-2 0.90
- 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 -0.989
- Literature evidence available