G53R (p.Gly53Arg) variant of ADAMTS13 (Q76LX8)
G53R (p.Gly53Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- gnomAD 9-133423152-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.11
- MetaLR 0.30
- MetaSVM -0.74
- CADD 6.07
- PolyPhen-2 0.12
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available