T11A (p.Thr11Ala) variant of LDLR (Low-density lipoprotein receptor)
T11A (p.Thr11Ala) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- gnomAD 19-11089579-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available