P31T (p.Pro31Thr) variant of LIPC (Hepatic triacylglycerol lipase)
P31T (p.Pro31Thr) 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 0.21 / 1. The record also includes population frequency data and structural context.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- ExAC rs758057124
- TOPMed rs758057124
- gnomAD rs758057124
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.15
- CADD 14.30
- PolyPhen-2 0.10
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00026)
- Structural context available