V12A (p.Val12Ala) variant of PLAU (P00749)
V12A (p.Val12Ala) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V12A (p.Val12Ala) variant details
- p.Val12Ala
- gnomAD rs1456313273
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.14
- MetaLR 0.41
- MetaSVM -0.76
- CADD 7.24
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available