S21T (p.Ser21Thr) variant of LIPC (Hepatic triacylglycerol lipase)
S21T (p.Ser21Thr) in LIPC (Hepatic triacylglycerol lipase) is a missense change. Clinical records from ClinVar 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 0.42 / 1. The record also includes population frequency data and structural context.
S21T (p.Ser21Thr) variant details
- p.Ser21Thr
- ESP rs369107346
- ExAC rs369107346
- TOPMed rs369107346
- gnomAD rs369107346
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.20
- CADD 12.70
- PolyPhen-2 0.26
- SIFT 0.35
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available