M37T (p.Met37Thr) variant of CHD7 (Q9P2D1)
M37T (p.Met37Thr) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of CHARGE syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M37T (p.Met37Thr) variant details
- p.Met37Thr
- rs1809009948
- ClinGen CA371295654
- ClinVar RCV003435503
- ClinVar RCV003603165
- Uncertain significance
- CHARGE syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.82
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (CHARGE syndrome; not provided)
- EBI: Variant of uncertain significance (in dbSNP:rs1416709395)
- UniProt: Uncertain significance (in dbSNP:rs1416709395)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)