N120Y (p.Asn120Tyr) variant of CNGA1 (P29973)
N120Y (p.Asn120Tyr) in CNGA1 (P29973) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N120Y (p.Asn120Tyr) variant details
- p.Asn120Tyr
- Ensembl rs2110142050
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.04
- CADD 21.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available