T59A (p.Thr59Ala) variant of CHD7 (Q9P2D1)
T59A (p.Thr59Ala) 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, published literature, and structural context.
T59A (p.Thr59Ala) variant details
- p.Thr59Ala
- gnomAD 8-60741607-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.15
- MetaLR 0.07
- MetaSVM -1.05
- CADD 4.17
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available