T62N (p.Thr62Asn) variant of ACAN (Aggrecan core protein)
T62N (p.Thr62Asn) in ACAN (Aggrecan core protein) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
T62N (p.Thr62Asn) variant details
- p.Thr62Asn
- rs200239326
- ClinGen CA7719162
- ClinVar RCV000294749
- ClinVar RCV002518947
- Conflicting interpretations
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 22.40
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)