P98L (p.Pro98Leu) variant of CNGA1 (P29973)
P98L (p.Pro98Leu) in CNGA1 (P29973) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
P98L (p.Pro98Leu) variant details
- p.Pro98Leu
- TOPMed rs1023306743
- gnomAD rs1023306743
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.04
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available