R34I (p.Arg34Ile) variant of LIPC (Hepatic triacylglycerol lipase)
R34I (p.Arg34Ile) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R34I (p.Arg34Ile) variant details
- p.Arg34Ile
- gnomAD 15-58538345-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.40
- CADD 22.80
- PolyPhen-2 0.80
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available