H53Y (p.His53Tyr) variant of PLAT (P00750)
H53Y (p.His53Tyr) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
H53Y (p.His53Tyr) variant details
- p.His53Tyr
- ESP rs142945501
- TOPMed rs142945501
- gnomAD rs142945501
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.10
- CADD 13.30
- PolyPhen-2 0.07
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available