D36H (p.Asp36His) variant of LDLR (Low-density lipoprotein receptor)
D36H (p.Asp36His) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D36H (p.Asp36His) variant details
- p.Asp36His
- gnomAD 19-11100261-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- MetaLR 0.90
- MetaSVM 0.71
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available