F32F (p.Phe32Phe) variant of LDLR (Low-density lipoprotein receptor)
F32F (p.Phe32Phe) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
F32F (p.Phe32Phe) variant details
- p.Phe32Phe
- rs549017482
- gnomAD 19-11100251-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 12.60
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available