M80L (p.Met80Leu) variant of CHD7 (Q9P2D1)
M80L (p.Met80Leu) 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; CHARGE syndrome; Hypogonadotropic hypogonadism 5 with o. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
M80L (p.Met80Leu) variant details
- p.Met80Leu
- rs753270420
- ClinGen CA4759278
- ClinVar RCV002732604
- ClinVar RCV005045402
- Conflicting interpretations
- Inborn genetic diseases; CHARGE syndrome; Hypogonadotropic hypogonadism 5 with o
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.04
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; CHARGE syndrome; Hypogonadotropic hypog)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)