M37V (p.Met37Val) variant of CHD7 (Q9P2D1)
M37V (p.Met37Val) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M37V (p.Met37Val) variant details
- p.Met37Val
- rs1416709395
- ClinGen CA371295642
- ClinVar RCV001952612
- ClinVar RCV002491980
- Conflicting interpretations
- not provided; Hypogonadotropic hypogonadism 5 with or without anosmia; CHARGE sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.11
- MetaLR 0.14
- MetaSVM -0.84
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hypogonadotropic hypogonadism 5 with or without an)
- EBI: Likely benign (in dbSNP:rs1416709395)
- UniProt: Likely benign (in dbSNP:rs1416709395)
- Most common in the Non-Finnish European population (allele frequency 3.6e-05)
- Structural context available
- CHD7 BRK domain domainome 1.0: score -0.355
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Clinical utility gene card for: CHARGE syndrome. (PMID 21407266)