A17A (p.Ala17Ala) variant of LDLR (Low-density lipoprotein receptor)
A17A (p.Ala17Ala) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A17A (p.Ala17Ala) variant details
- p.Ala17Ala
- rs2077058281
- gnomAD 19-11089599-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.112
- CADD 4.37
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available