R123P (p.Arg123Pro) variant of LCAT (P04180)
R123P (p.Arg123Pro) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Norum disease; Fish-eye disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
R123P (p.Arg123Pro) variant details
- p.Arg123Pro
- ExAC rs199717050
- TOPMed rs199717050
- gnomAD rs199717050
- Uncertain significance
- Norum disease; Fish-eye disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.82
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Norum disease; Fish-eye disease)
- EBI: Variant of uncertain significance (in FED)
- UniProt: Uncertain significance (in FED)
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available