E117* (p.Glu117Ter) variant of CNGA1 (P29973)
E117* (p.Glu117Ter) in CNGA1 (P29973) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E117* (p.Glu117Ter) variant details
- p.Glu117Ter
- rs539600817
- ClinGen CA356832333
- ClinVar RCV002252864
- ClinVar RCV003447619
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.433
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -0.96
- CADD 37.00
- PolyPhen-2 0.00
- SIFT 0.25
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available