R34* (p.Arg34Ter) variant of USH2A (Usherin)
R34* (p.Arg34Ter) in USH2A (Usherin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs772808534
- ClinGen CA1396855
- cosmic curated COSV10813
- ClinVar RCV000504668
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.486
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)