K104E (p.Lys104Glu) variant of CNGA1 (P29973)
K104E (p.Lys104Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K104E (p.Lys104Glu) variant details
- p.Lys104Glu
- gnomAD rs1357232779
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.05
- CADD 22.20
- PolyPhen-2 0.17
- SIFT 0.98
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available