C27C (p.Cys27Cys) variant of LDLR (Low-density lipoprotein receptor)
C27C (p.Cys27Cys) in LDLR (Low-density lipoprotein receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
C27C (p.Cys27Cys) variant details
- p.Cys27Cys
- rs2228671
- gnomAD 19-11100236-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.452
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 1.10
- CADD 6.53
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Literature evidence available