A17V (p.Ala17Val) variant of PLAT (P00750)
A17V (p.Ala17Val) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD rs1259212803
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.18
- CADD 4.63
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available