K21M (p.Lys21Met) variant of ATP7B (Copper-transporting ATPase 2)
K21M (p.Lys21Met) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K21M (p.Lys21Met) variant details
- p.Lys21Met
- rs199514391
- ClinGen CA6989623
- ClinVar RCV002995715
- ClinVar RCV004593117
- Conflicting interpretations
- not provided; Inborn genetic diseases; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.00
- PolyPhen-2 0.44
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)