V8A (p.Val8Ala) variant of LPL (Lipoprotein lipase)
V8A (p.Val8Ala) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD 8-19939463-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- MetaLR 0.40
- MetaSVM -0.52
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available