M6I (p.Met6Ile) variant of CHD7 (Q9P2D1)
M6I (p.Met6Ile) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M6I (p.Met6Ile) variant details
- p.Met6Ile
- rs775507949
- ClinGen CA4759253
- ClinVar RCV003603027
- ExAC rs775507949
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.19
- MetaLR 0.19
- MetaSVM -0.91
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Benign (CHARGE syndrome)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.699
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)