R27H (p.Arg27His) variant of ATP7B (Copper-transporting ATPase 2)
R27H (p.Arg27His) 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 not provided; Wilson disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R27H (p.Arg27His) variant details
- p.Arg27His
- rs371345946
- ClinGen CA6989619
- cosmic curated COSV54438
- ClinVar RCV001111264
- Uncertain significance
- not provided; Wilson disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 4.73
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (not provided; Wilson disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)