P30T (p.Pro30Thr) variant of APOE (Apolipoprotein E)
P30T (p.Pro30Thr) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- gnomAD 19-44907804-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0938
- REVEL 0.12
- CADD 0.24
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available