P63R (p.Pro63Arg) variant of ADAMTS13 (Q76LX8)
P63R (p.Pro63Arg) in ADAMTS13 (Q76LX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
P63R (p.Pro63Arg) variant details
- p.Pro63Arg
- gnomAD rs1554784553
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.14
- MetaLR 0.35
- MetaSVM -0.74
- CADD 4.65
- PolyPhen-2 0.35
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available