G2137R (p.Gly2137Arg) variant of MYO7A (Unconventional myosin-VIIa)
G2137R (p.Gly2137Arg) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; Autosomal dominant nonsyndromic hearing loss 11; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
G2137R (p.Gly2137Arg) variant details
- p.Gly2137Arg
- rs1223784415
- ClinGen CA381937582
- ClinVar RCV001198584
- ClinVar RCV001859204
- Uncertain significance
- Retinal dystrophy; Autosomal dominant nonsyndromic hearing loss 11; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.86
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Likely pathogenic (in USH1B)
- UniProt: Likely pathogenic (in USH1B)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)