N30K (p.Asn30Lys) variant of PLAU (P00749)
N30K (p.Asn30Lys) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- gnomAD 10-73912219-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.24
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available