K125E (p.Lys125Glu) variant of CNGA1 (P29973)
K125E (p.Lys125Glu) in CNGA1 (P29973) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K125E (p.Lys125Glu) variant details
- p.Lys125Glu
- TOPMed rs889829783
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.02
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available