R69K (p.Arg69Lys) variant of ADAMTS13 (Q76LX8)
R69K (p.Arg69Lys) in ADAMTS13 (Q76LX8) is a missense change. Clinical records from ClinVar, EBI, 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R69K (p.Arg69Lys) variant details
- p.Arg69Lys
- rs2491058298
- ClinGen CA375707062
- ClinVar RCV002719639
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.12
- MetaLR 0.29
- MetaSVM -0.80
- CADD 17.50
- PolyPhen-2 0.07
- SIFT 0.21
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)