M37L (p.Met37Leu) variant of CHD7 (Q9P2D1)
M37L (p.Met37Leu) in CHD7 (Q9P2D1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M37L (p.Met37Leu) variant details
- p.Met37Leu
- rs1416709395
- UniProt VAR 068374
- TOPMed rs1416709395
- gnomAD rs1416709395
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.21
- MetaLR 0.07
- MetaSVM -0.99
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Likely benign (in dbSNP:rs1416709395)
- UniProt: Likely benign (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: Mutation update on the CHD7 gene involved in CHARGE syndrome. (PMID 22461308)