A14D (p.Ala14Asp) variant of ATP7B (Copper-transporting ATPase 2)
A14D (p.Ala14Asp) in ATP7B (Copper-transporting ATPase 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- rs587783319
- ClinGen CA171326
- ClinVar RCV000145283
- UniProt VAR 023010
- Benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.80
- MetaSVM 0.25
- PolyPhen-2 0.07
- SIFT 0.03
- ClinVar: Benign (not specified)
- EBI: Benign (in dbSNP:rs587783319)
- UniProt: Benign (in dbSNP:rs587783319)
- Structural context available
- Cited in: Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic… (PMID 14986826)