G1298R (p.Gly1298Arg) variant of MYO7A (Unconventional myosin-VIIa)
G1298R (p.Gly1298Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rare genetic deafness; Autosomal recessive nonsyndromic hearing loss 2; Usher sy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G1298R (p.Gly1298Arg) variant details
- p.Gly1298Arg
- rs727503329
- ClinGen CA278722
- ClinVar RCV000151505
- ClinVar RCV000844721
- Pathogenic
- Rare genetic deafness; Autosomal recessive nonsyndromic hearing loss 2; Usher sy
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.88
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)