H61R (p.His61Arg) variant of PLAU (P00749)
H61R (p.His61Arg) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H61R (p.His61Arg) variant details
- p.His61Arg
- gnomAD 10-73912311-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.22
- MetaLR 0.16
- MetaSVM -0.86
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available