A40E (p.Ala40Glu) variant of PHF6 (PHD finger protein 6)
A40E (p.Ala40Glu) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of Neuroblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- rs1556013242
- ClinGen CA414710854
- cosmic curated COSV59704
- ClinVar RCV000505651
- other
- Neuroblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.96
- MetaLR 0.75
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.79
- ClinVar: other (Neuroblastoma)
- UniProt: Other
- Structural context available
- Cited in: ALK-Related Neuroblastic Tumor Susceptibility. (PMID 20301782)