R109W (p.Arg109Trp) variant of LCAT (P04180)
R109W (p.Arg109Trp) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R109W (p.Arg109Trp) variant details
- p.Arg109Trp
- rs751636804
- ClinGen CA8121110
- ClinVar RCV002710099
- ExAC rs751636804
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.55
- CADD 28.10
- PolyPhen-2 0.74
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available