G60D (p.Gly60Asp) variant of CNGA1 (P29973)
G60D (p.Gly60Asp) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
G60D (p.Gly60Asp) variant details
- p.Gly60Asp
- ESP rs201031527
- ExAC rs201031527
- TOPMed rs201031527
- gnomAD rs201031527
- Uncertain significance
- Retinal dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0509
- REVEL 0.03
- CADD 3.39
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (Retinal dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available