A2T (p.Ala2Thr) variant of CHD7 (Q9P2D1)
A2T (p.Ala2Thr) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- cosmic curated COSV71113
- gnomAD rs1468803021
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.14
- MetaLR 0.11
- MetaSVM -0.98
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.472