S26R (p.Ser26Arg) variant of LIPC (Hepatic triacylglycerol lipase)
S26R (p.Ser26Arg) in LIPC (Hepatic triacylglycerol lipase) 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 0.27 / 1. The record also includes population frequency data and structural context.
S26R (p.Ser26Arg) variant details
- p.Ser26Arg
- rs780267766
- ClinGen CA7584678
- ClinVar RCV003811837
- ExAC rs780267766
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.25
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available