Y50H (p.Tyr50His) variant of PLAT (P00750)
Y50H (p.Tyr50His) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
Y50H (p.Tyr50His) variant details
- p.Tyr50His
- cosmic curated COSV54274
- ExAC rs753017094
- TOPMed rs753017094
- gnomAD rs753017094
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.57
- CADD 21.80
- PolyPhen-2 0.10
- SIFT 0.11
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available