L9H (p.Leu9His) variant of PLAU (P00749)
L9H (p.Leu9His) in PLAU (P00749) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L9H (p.Leu9His) variant details
- p.Leu9His
- gnomAD 10-73911581-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.44
- CADD 23.30
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available