K69R (p.Lys69Arg) variant of CNGA1 (P29973)
K69R (p.Lys69Arg) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
K69R (p.Lys69Arg) variant details
- p.Lys69Arg
- ExAC rs759049596
- TOPMed rs759049596
- gnomAD rs759049596
- Missense
- Variant Prioritization Score for Impact Estimate 0.0406
- REVEL 0.01
- CADD 1.98
- PolyPhen-2 0.00
- SIFT 0.62
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available