W5R (p.Trp5Arg) variant of APOE (Apolipoprotein E)
W5R (p.Trp5Arg) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
W5R (p.Trp5Arg) variant details
- p.Trp5Arg
- gnomAD 19-44906637-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.66
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available