R9K (p.Arg9Lys) variant of LDLR (Low-density lipoprotein receptor)
R9K (p.Arg9Lys) in LDLR (Low-density lipoprotein receptor) is a missense 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.
R9K (p.Arg9Lys) variant details
- p.Arg9Lys
- rs1305381653
- gnomAD 19-11090638-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 6.18
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available