E31V (p.Glu31Val) variant of LDLR (Low-density lipoprotein receptor)
E31V (p.Glu31Val) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- rs2077076613
- gnomAD 19-11090686-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- CADD 11.70
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available