K49N (p.Lys49Asn) variant of LIPC (Hepatic triacylglycerol lipase)
K49N (p.Lys49Asn) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K49N (p.Lys49Asn) variant details
- p.Lys49Asn
- gnomAD 15-58538391-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.27
- MetaLR 0.50
- MetaSVM -0.27
- CADD 18.40
- PolyPhen-2 0.33
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Literature evidence available