M80V (p.Met80Val) variant of CHD7 (Q9P2D1)
M80V (p.Met80Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; CHARGE syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
M80V (p.Met80Val) variant details
- p.Met80Val
- rs753270420
- ClinGen CA371296676
- ClinVar RCV002291460
- ClinVar RCV006470452
- Uncertain significance
- not provided; CHARGE syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.12
- MetaLR 0.17
- MetaSVM -0.88
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided; CHARGE syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)