G7V (p.Gly7Val) variant of MYO7A (Unconventional myosin-VIIa)
G7V (p.Gly7Val) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Usher syndrome; Autosomal recessive nonsyndromic hearing loss 2. 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.
G7V (p.Gly7Val) variant details
- p.Gly7Val
- rs781989117
- ClinGen CA6197007
- ClinVar RCV000681538
- ClinVar RCV001212886
- Pathogenic/Likely pathogenic
- not provided; Usher syndrome; Autosomal recessive nonsyndromic hearing loss 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.94
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Usher syndrome; Autosomal recessive nonsyndromic h)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)