E968D (p.Glu968Asp) variant of MYO7A (Unconventional myosin-VIIa)
E968D (p.Glu968Asp) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Usher syndrome type 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
E968D (p.Glu968Asp) variant details
- p.Glu968Asp
- rs111033233
- ClinGen CA278647
- ClinVar RCV000036100
- ClinVar RCV000414534
- Uncertain significance
- Usher syndrome type 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.688
- REVEL 0.56
- CADD 36.00
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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: Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID 15660226)