A19T (p.Ala19Thr) variant of LDLR (Low-density lipoprotein receptor)
A19T (p.Ala19Thr) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 19-11089603-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 12.40
- PolyPhen-2 0.00
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available