T11I (p.Thr11Ile) variant of LDLR (Low-density lipoprotein receptor)
T11I (p.Thr11Ile) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
T11I (p.Thr11Ile) variant details
- p.Thr11Ile
- ExAC rs777266061
- gnomAD rs777266061
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- CADD 5.04
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available