D25Y (p.Asp25Tyr) variant of LDLR (Low-density lipoprotein receptor)
D25Y (p.Asp25Tyr) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
D25Y (p.Asp25Tyr) variant details
- p.Asp25Tyr
- gnomAD 19-11100228-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- MetaLR 0.67
- MetaSVM -0.20
- CADD 16.10
- PolyPhen-2 0.96
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Literature evidence available