K101E (p.Lys101Glu) variant of CNGA1 (P29973)
K101E (p.Lys101Glu) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K101E (p.Lys101Glu) variant details
- p.Lys101Glu
- ExAC rs766004809
- gnomAD rs766004809
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.09
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.82
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available