T53I (p.Thr53Ile) variant of LPL (Lipoprotein lipase)
T53I (p.Thr53Ile) in LPL (Lipoprotein lipase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T53I (p.Thr53Ile) variant details
- p.Thr53Ile
- gnomAD 8-19948249-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 14.20
- PolyPhen-2 0.06
- SIFT 0.35
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available