W4C (p.Trp4Cys) variant of LDLR (Low-density lipoprotein receptor)
W4C (p.Trp4Cys) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
W4C (p.Trp4Cys) variant details
- p.Trp4Cys
- gnomAD 19-11089560-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.0997
- CADD 5.45
- PolyPhen-2 0.19
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available