I43T (p.Ile43Thr) variant of CHD7 (Q9P2D1)
I43T (p.Ile43Thr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I43T (p.Ile43Thr) variant details
- p.Ile43Thr
- gnomAD rs1435948803
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.07
- MetaLR 0.14
- MetaSVM -0.91
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available