H37Y (p.His37Tyr) variant of ATP7A (Copper-transporting ATPase 1)
H37Y (p.His37Tyr) in ATP7A (Copper-transporting ATPase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
H37Y (p.His37Tyr) variant details
- p.His37Tyr
- rs1300080642
- ClinGen CA413597848
- ClinVar RCV002450602
- ClinVar RCV005416638
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.22
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-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)