T86A (p.Thr86Ala) variant of ATP1A1 (P05023)
T86A (p.Thr86Ala) in ATP1A1 (P05023) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T86A (p.Thr86Ala) variant details
- p.Thr86Ala
- rs780391814
- ClinGen CA1025078
- ClinVar RCV002612939
- ClinVar RCV005288773
- Conflicting interpretations
- not specified; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.76
- MetaLR 0.48
- MetaSVM 0.07
- CADD 24.10
- PolyPhen-2 0.58
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- 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)