R9W (p.Arg9Trp) variant of LDLR (Low-density lipoprotein receptor)
R9W (p.Arg9Trp) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- rs2077074813
- gnomAD 19-11090604-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.097
- CADD 7.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available