V137L (p.Val137Leu) variant of VWF (von Willebrand factor)
V137L (p.Val137Leu) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V137L (p.Val137Leu) variant details
- p.Val137Leu
- rs71582882
- ClinGen CA6403809
- ClinVar RCV003477403
- ClinVar RCV005240784
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.10
- MetaLR 0.26
- MetaSVM -0.82
- CADD 19.60
- PolyPhen-2 0.18
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available