R123H (p.Arg123His) variant of LCAT (P04180)
R123H (p.Arg123His) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R123H (p.Arg123His) variant details
- p.Arg123His
- rs199717050
- ClinGen CA8121099
- ClinVar RCV001794818
- ExAC rs199717050
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.68
- CADD 24.90
- PolyPhen-2 0.51
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance (in FED)
- UniProt: Uncertain significance (in FED)
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0032)
- Structural context available