K65E (p.Lys65Glu) variant of CNGA1 (P29973)
K65E (p.Lys65Glu) 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.
K65E (p.Lys65Glu) variant details
- p.Lys65Glu
- ExAC rs769198976
- gnomAD rs769198976
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.05
- CADD 7.33
- PolyPhen-2 0.01
- SIFT 0.86
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available