S62F (p.Ser62Phe) variant of ADAMTS13 (Q76LX8)
S62F (p.Ser62Phe) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S62F (p.Ser62Phe) variant details
- p.Ser62Phe
- rs375370257
- ESP rs375370257
- ExAC rs375370257
- TOPMed rs375370257
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.08
- MetaLR 0.36
- MetaSVM -0.64
- CADD 12.60
- PolyPhen-2 0.08
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available