N116K (p.Asn116Lys) variant of CNGA1 (P29973)
N116K (p.Asn116Lys) in CNGA1 (P29973) is a missense change. 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.
N116K (p.Asn116Lys) variant details
- p.Asn116Lys
- ExAC rs755244560
- TOPMed rs755244560
- gnomAD rs755244560
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.03
- CADD 0.14
- PolyPhen-2 0.00
- SIFT 0.93
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available