A17S (p.Ala17Ser) variant of LDLR (Low-density lipoprotein receptor)
A17S (p.Ala17Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- TOPMed rs1201172788
- gnomAD rs1201172788
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- CADD 6.58
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available