C51R (p.Cys51Arg) variant of PLAU (P00749)
C51R (p.Cys51Arg) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- gnomAD 10-73912280-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.49
- MetaLR 0.57
- MetaSVM 0.22
- CADD 26.50
- 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