F32A (p.Phe32Ala) variant of LDLR (Low-density lipoprotein receptor)
F32A (p.Phe32Ala) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F32A (p.Phe32Ala) variant details
- p.Phe32Ala
- rs1305934975
- gnomAD 19-11090729-TTTCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.137
- CADD 7.90
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Literature evidence available