R29I (p.Arg29Ile) variant of LDLR (Low-density lipoprotein receptor)
R29I (p.Arg29Ile) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R29I (p.Arg29Ile) variant details
- p.Arg29Ile
- gnomAD 19-11100241-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- MetaLR 0.83
- MetaSVM 0.34
- CADD 23.00
- PolyPhen-2 0.88
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available