V15M (p.Val15Met) variant of PLAU (P00749)
V15M (p.Val15Met) in PLAU (P00749) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
V15M (p.Val15Met) variant details
- p.Val15Met
- 1000Genomes rs2227580
- ESP rs2227580
- ExAC rs2227580
- TOPMed rs2227580
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.25
- MetaLR 0.61
- MetaSVM -0.21
- CADD 23.90
- SIFT 0.08
- EBI: Benign (in dbSNP:rs2227580)
- UniProt: Benign (in dbSNP:rs2227580)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available