M33T (p.Met33Thr) variant of ATP7B (Copper-transporting ATPase 2)
M33T (p.Met33Thr) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ATP7B-related disorder; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M33T (p.Met33Thr) variant details
- p.Met33Thr
- rs184868522
- ClinGen CA241265
- cosmic curated COSV10609
- ClinVar RCV000029385
- Uncertain significance
- ATP7B-related disorder; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (ATP7B-related disorder; Inborn genetic diseases; not specified)
- 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)