M41I (p.Met41Ile) variant of CHD7 (Q9P2D1)
M41I (p.Met41Ile) 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 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M41I (p.Met41Ile) variant details
- p.Met41Ile
- rs756851968
- UniProt VAR 068104
- ExAC rs756851968
- TOPMed rs756851968
- Benign
- CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- MetaLR 0.23
- MetaSVM -0.61
- CADD 23.00
- PolyPhen-2 0.38
- SIFT 0.05
- ClinVar: Benign (CHARGE syndrome)
- EBI: Variant of uncertain significance (in CHARGES)
- UniProt: Uncertain significance (in CHARGES)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.637
- Cited in: Mutations in the CHD7 gene: the experience of a commercial laboratory. (PMID 21158681)
- Cited in: Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. (PMID 15300250)