T49I (p.Thr49Ile) variant of LPL (Lipoprotein lipase)
T49I (p.Thr49Ile) in LPL (Lipoprotein lipase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- NCI-TCGA Cosmic COSV6093
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available