W10C (p.Trp10Cys) variant of LDLR (Low-density lipoprotein receptor)
W10C (p.Trp10Cys) 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.
W10C (p.Trp10Cys) variant details
- p.Trp10Cys
- gnomAD 19-11089578-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available