K124N (p.Lys124Asn) variant of CNGA1 (P29973)
K124N (p.Lys124Asn) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
K124N (p.Lys124Asn) variant details
- p.Lys124Asn
- TOPMed rs1247475814
- gnomAD rs1247475814
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.09
- CADD 17.40
- PolyPhen-2 0.87
- SIFT 0.49
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available