T64A (p.Thr64Ala) variant of CHD7 (Q9P2D1)
T64A (p.Thr64Ala) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
T64A (p.Thr64Ala) variant details
- p.Thr64Ala
- TOPMed rs1299084588
- gnomAD rs1299084588
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.05
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available