A20T (p.Ala20Thr) variant of ADAMTS13 (Q76LX8)
A20T (p.Ala20Thr) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Inborn genetic diseases; Upshaw-Schulman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs142293909
- 1000Genomes rs142293909
- ESP rs142293909
- ExAC rs142293909
- Conflicting interpretations
- not specified; Inborn genetic diseases; Upshaw-Schulman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0948
- REVEL 0.04
- MetaLR 0.26
- MetaSVM -0.89
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; Upshaw-Schulman syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)