K104N (p.Lys104Asn) variant of CNGA1 (P29973)
K104N (p.Lys104Asn) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K104N (p.Lys104Asn) variant details
- p.Lys104Asn
- gnomAD rs1276261054
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.04
- CADD 23.70
- PolyPhen-2 0.38
- SIFT 0.46
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available