E100K (p.Glu100Lys) variant of CNGA1 (P29973)
E100K (p.Glu100Lys) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
E100K (p.Glu100Lys) variant details
- p.Glu100Lys
- Ensembl rs1739215115
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.85
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available