H53Q (p.His53Gln) variant of PLAT (P00750)
H53Q (p.His53Gln) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
H53Q (p.His53Gln) variant details
- p.His53Gln
- TOPMed rs1397665499
- gnomAD rs1397665499
- Missense
- Variant Prioritization Score for Impact Estimate 0.0733
- REVEL 0.07
- CADD 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available