G39R (p.Gly39Arg) variant of VWF (von Willebrand factor)
G39R (p.Gly39Arg) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- rs1397778191
- ClinGen CA383508636
- NCI-TCGA Cosmic COSV5462
- NCI-TCGA Cosmic COSV9978
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.68
- MetaLR 0.64
- MetaSVM 0.57
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available