M6T (p.Met6Thr) variant of CHD7 (Q9P2D1)
M6T (p.Met6Thr) 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, and structural context.
M6T (p.Met6Thr) variant details
- p.Met6Thr
- Ensembl rs1424623930
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.32
- MetaLR 0.16
- MetaSVM -0.77
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.00
- Population evidence available
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.699