A18S (p.Ala18Ser) variant of LDLR (Low-density lipoprotein receptor)
A18S (p.Ala18Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 19-11089600-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- CADD 15.90
- PolyPhen-2 0.40
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available