V12L (p.Val12Leu) variant of PLAU (P00749)
V12L (p.Val12Leu) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- ExAC rs777370331
- gnomAD rs777370331
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.11
- MetaLR 0.48
- MetaSVM -0.71
- CADD 7.13
- PolyPhen-2 0.10
- SIFT 0.38
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available