G53D (p.Gly53Asp) variant of ADAMTS13 (Q76LX8)
G53D (p.Gly53Asp) 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 0.09 / 1. The record also includes population frequency data and structural context.
G53D (p.Gly53Asp) variant details
- p.Gly53Asp
- rs1554784062
- gnomAD rs1554784062
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.088
- REVEL 0.03
- MetaLR 0.26
- MetaSVM -0.89
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available