Q60H (p.Gln60His) variant of LIPC (Hepatic triacylglycerol lipase)
Q60H (p.Gln60His) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q60H (p.Gln60His) variant details
- p.Gln60His
- rs754538725
- NCI-TCGA Cosmic COSV5442
- cosmic curated COSV54425
- ExAC rs754538725
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.20
- CADD 15.00
- PolyPhen-2 0.57
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available