G29R (p.Gly29Arg) variant of ADAMTS13 (Q76LX8)
G29R (p.Gly29Arg) 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 0.50 / 1. The record also includes population frequency data and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- Ensembl rs1840019690
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10074
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.44
- AlphaMissense 0.21
- MetaLR 0.65
- MetaSVM 0.23
- CADD 23.50
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available