A3V (p.Ala3Val) variant of PLAU (P00749)
A3V (p.Ala3Val) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 10-73911563-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.20
- CADD 2.12
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available