A22V (p.Ala22Val) variant of LIPC (Hepatic triacylglycerol lipase)
A22V (p.Ala22Val) in LIPC (Hepatic triacylglycerol lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 15-58432097-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.17
- CADD 8.09
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available