I40T (p.Ile40Thr) variant of LDLR (Low-density lipoprotein receptor)
I40T (p.Ile40Thr) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
I40T (p.Ile40Thr) variant details
- p.Ile40Thr
- gnomAD 19-11090680-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0597
- CADD 2.39
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available