C34C (p.Cys34Cys) variant of LDLR (Low-density lipoprotein receptor)
C34C (p.Cys34Cys) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
C34C (p.Cys34Cys) variant details
- p.Cys34Cys
- rs879254407
- gnomAD 19-11100257-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.99
- MetaLR 1.00
- MetaSVM 0.99
- CADD 6.34
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available