G2163S (p.Gly2163Ser) variant of MYO7A (Unconventional myosin-VIIa)
G2163S (p.Gly2163Ser) 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 Usher syndrome; not provided; Autosomal dominant nonsyndromic hearing loss 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G2163S (p.Gly2163Ser) variant details
- p.Gly2163Ser
- rs747656448
- ClinGen CA6199094
- NCI-TCGA Cosmic COSV6002
- cosmic curated COSV60020
- Pathogenic/Likely pathogenic
- Usher syndrome; not provided; Autosomal dominant nonsyndromic hearing loss 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.67
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Usher syndrome; not provided; Autosomal dominant nonsyndromic he)
- EBI: Pathogenic (in USH1B)
- UniProt: Pathogenic (in USH1B)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. (PMID 10094549)
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)