V12I (p.Val12Ile) variant of PLAU (P00749)
V12I (p.Val12Ile) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V12I (p.Val12Ile) variant details
- p.Val12Ile
- gnomAD 10-73911589-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 6.16
- PolyPhen-2 0.06
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available