S31F (p.Ser31Phe) variant of ADAMTS13 (Q76LX8)
S31F (p.Ser31Phe) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S31F (p.Ser31Phe) variant details
- p.Ser31Phe
- ExAC rs782296373
- gnomAD rs782296373
- Uncertain significance
- Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.24
- MetaLR 0.63
- MetaSVM -0.27
- CADD 17.70
- PolyPhen-2 0.87
- SIFT 0.70
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available