S36* (p.Ser36Ter) variant of CRB1 (Protein crumbs homolog 1)
S36* (p.Ser36Ter) in CRB1 (Protein crumbs homolog 1) 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.
S36* (p.Ser36Ter) variant details
- p.Ser36Ter
- rs2125303600
- NCI-TCGA Cosmic COSV6633
- cosmic curated COSV66339
- ClinGen CA344085033
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.491
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. (PMID 30285347)
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)