W70G (p.Trp70Gly) variant of PLAT (P00750)
W70G (p.Trp70Gly) in PLAT (P00750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
W70G (p.Trp70Gly) variant details
- p.Trp70Gly
- TOPMed rs928742057
- gnomAD rs928742057
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.17
- CADD 6.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available