E50* (p.Glu50Ter) variant of CNGA1 (P29973)
E50* (p.Glu50Ter) in CNGA1 (P29973) 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 0.75 / 1. The record also includes population frequency data and structural context.
E50* (p.Glu50Ter) variant details
- p.Glu50Ter
- rs2110157889
- ClinGen CA356835456
- NCI-TCGA Cosmic COSV6205
- cosmic curated COSV62054
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available