Y78H (p.Tyr78His) variant of PLAU (P00749)
Y78H (p.Tyr78His) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
Y78H (p.Tyr78His) variant details
- p.Tyr78His
- gnomAD 10-73912962-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.85
- MetaLR 0.86
- MetaSVM 0.97
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available