L129M (p.Leu129Met) variant of VWF (von Willebrand factor)
L129M (p.Leu129Met) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L129M (p.Leu129Met) variant details
- p.Leu129Met
- rs61753991
- ClinGen CA228468
- ClinVar RCV000086692
- ClinVar RCV004739356
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.38
- MetaLR 0.26
- MetaSVM -0.47
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available