T53A (p.Thr53Ala) variant of LPL (Lipoprotein lipase)
T53A (p.Thr53Ala) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- ExAC rs750594245
- gnomAD rs750594245
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 18.80
- PolyPhen-2 0.10
- SIFT 0.40
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available