L30* (p.Leu30Ter) variant of USH2A (Usherin)
L30* (p.Leu30Ter) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L30* (p.Leu30Ter) variant details
- p.Leu30Ter
- rs2527655487
- ClinGen CA344905045
- ClinVar RCV003464783
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.83
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)