M7I (p.Met7Ile) variant of CHD7 (Q9P2D1)
M7I (p.Met7Ile) in CHD7 (Q9P2D1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M7I (p.Met7Ile) variant details
- p.Met7Ile
- Ensembl rs1809002113
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.38
- MetaLR 0.48
- MetaSVM -0.06
- CADD 25.70
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.238