V15L (p.Val15Leu) variant of PLAU (P00749)
V15L (p.Val15Leu) in PLAU (P00749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Quebec platelet disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V15L (p.Val15Leu) variant details
- p.Val15Leu
- rs2227580
- 1000Genomes rs2227580
- ESP rs2227580
- ExAC rs2227580
- Benign
- not provided; Quebec platelet disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.10
- MetaLR 0.23
- MetaSVM -0.85
- CADD 18.50
- PolyPhen-2 0.04
- SIFT 0.28
- ClinVar: Benign (not provided; Quebec platelet disorder; not specified)
- EBI: Benign (in dbSNP:rs2227580)
- UniProt: Benign (in dbSNP:rs2227580)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.083)
- Structural context available
- Cited in: Quebec platelet disorder: update on pathogenesis, diagnosis, and treatment. (PMID 22102275)