W24R (p.Trp24Arg) variant of NFE2L2 (Q16236)
W24R (p.Trp24Arg) in NFE2L2 (Q16236) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
W24R (p.Trp24Arg) variant details
- p.Trp24Arg
- rs1328994103
- NCI-TCGA Cosmic COSV6796
- cosmic curated COSV67960
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.51
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for… (PMID 22918138)
- Cited in: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for… (PMID 23619274)