P60L (p.Pro60Leu) variant of ADAMTS13 (Q76LX8)
P60L (p.Pro60Leu) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P60L (p.Pro60Leu) variant details
- p.Pro60Leu
- rs782677352
- ClinGen CA200880107
- ClinVar RCV002784366
- ExAC rs782677352
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.13
- MetaLR 0.25
- MetaSVM -0.90
- CADD 0.64
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-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)