R74W (p.Arg74Trp) variant of ADAMTS13 (Q76LX8)
R74W (p.Arg74Trp) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R74W (p.Arg74Trp) variant details
- p.Arg74Trp
- rs1255730642
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10074
- TOPMed rs1255730642
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.13
- MetaLR 0.37
- MetaSVM -0.74
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available