K106R (p.Lys106Arg) variant of CNGA1 (P29973)
K106R (p.Lys106Arg) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K106R (p.Lys106Arg) variant details
- p.Lys106Arg
- TOPMed rs1398818310
- gnomAD rs1398818310
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.12
- CADD 22.10
- PolyPhen-2 0.97
- SIFT 0.68
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available