R29S (p.Arg29Ser) variant of LDLR (Low-density lipoprotein receptor)
R29S (p.Arg29Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- gnomAD 19-11090733-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0754
- CADD 4.33
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available