R63* (p.Arg63Ter) variant of USH2A (Usherin)
R63* (p.Arg63Ter) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R63* (p.Arg63Ter) variant details
- p.Arg63Ter
- rs781223647
- ClinGen CA1396846
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 26.10
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Usher Syndrome Type II. (PMID 20301515)