M80I (p.Met80Ile) variant of CHD7 (Q9P2D1)
M80I (p.Met80Ile) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M80I (p.Met80Ile) variant details
- p.Met80Ile
- rs199675125
- ClinGen CA241702
- ClinVar RCV000175885
- ClinVar RCV001360389
- Conflicting interpretations
- Inborn genetic diseases; not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.97
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; CHARGE syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)