P6S (p.Pro6Ser) variant of ADAMTS13 (Q76LX8)
P6S (p.Pro6Ser) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Upshaw-Schulman syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P6S (p.Pro6Ser) variant details
- p.Pro6Ser
- ESP rs375023076
- ExAC rs375023076
- gnomAD rs375023076
- Uncertain significance
- Upshaw-Schulman syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.20
- MetaLR 0.42
- MetaSVM -0.57
- CADD 6.84
- PolyPhen-2 0.15
- SIFT 0.11
- ClinVar: Uncertain significance (Upshaw-Schulman syndrome; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available