G214R (p.Gly214Arg) variant of MYO7A (Unconventional myosin-VIIa)
G214R (p.Gly214Arg) 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 Rare genetic deafness; Usher syndrome; Retinal dystrophy. 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.
G214R (p.Gly214Arg) variant details
- p.Gly214Arg
- rs111033283
- ClinGen CA278709
- NCI-TCGA Cosmic COSV6868
- cosmic curated COSV68685
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Usher syndrome; Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- REVEL 0.96
- CADD 29.60
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Usher syndrome; Retinal dystrophy)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from… (PMID 9382091)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)