E76K (p.Glu76Lys) variant of CNGA1 (P29973)
E76K (p.Glu76Lys) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinitis pigmentosa 49. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- rs121909599
- ClinGen CA2911341
- ClinVar RCV002287258
- ESP rs121909599
- Uncertain significance
- Retinitis pigmentosa 49
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.03
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Uncertain significance (Retinitis pigmentosa 49)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available