N55K (p.Asn55Lys) variant of CNGA1 (P29973)
N55K (p.Asn55Lys) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N55K (p.Asn55Lys) variant details
- p.Asn55Lys
- ExAC rs762187089
- TOPMed rs762187089
- gnomAD rs762187089
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.02
- CADD 6.57
- PolyPhen-2 0.02
- SIFT 0.79
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available