R9S (p.Arg9Ser) variant of LDLR (Low-density lipoprotein receptor)
R9S (p.Arg9Ser) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 19-11089573-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- CADD 9.72
- PolyPhen-2 0.05
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available