G2187D (p.Gly2187Asp) variant of MYO7A (Unconventional myosin-VIIa)
G2187D (p.Gly2187Asp) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Usher syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G2187D (p.Gly2187Asp) variant details
- p.Gly2187Asp
- rs397516332
- ClinGen CA278713
- ClinVar RCV000036241
- ClinVar RCV000675126
- Likely pathogenic
- Usher syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Usher syndrome)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Cited in: Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I. (PMID 10930322)
- Cited in: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)