E216V (p.Glu216Val) variant of MYO6 (Unconventional myosin-VI)
E216V (p.Glu216Val) in MYO6 (Unconventional myosin-VI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant nonsyndromic hearing loss 22; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and published literature.
E216V (p.Glu216Val) variant details
- p.Glu216Val
- rs121912559
- UniProt VAR 016209
- Conflicting interpretations
- Autosomal dominant nonsyndromic hearing loss 22; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.33
- CADD 23.40
- PolyPhen-2 0.34
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant nonsyndromic hearing loss 22; not provided)
- EBI: Pathogenic (in DFNB37)
- UniProt: Pathogenic (in DFNB37)
- Most common in the 1KG:GIH population (allele frequency 0.035)
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)
- Cited in: Mutations of MYO6 are associated with recessive deafness, DFNB37. (PMID 12687499)