S36N (p.Ser36Asn) variant of ADAMTS13 (Q76LX8)
S36N (p.Ser36Asn) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
S36N (p.Ser36Asn) variant details
- p.Ser36Asn
- gnomAD rs1554784005
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.16
- MetaLR 0.35
- MetaSVM -0.71
- CADD 4.44
- PolyPhen-2 0.17
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available