W70R (p.Trp70Arg) variant of PLAT (P00750)
W70R (p.Trp70Arg) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
W70R (p.Trp70Arg) variant details
- p.Trp70Arg
- TOPMed rs928742057
- gnomAD rs928742057
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.13
- CADD 0.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available