R51W (p.Arg51Trp) variant of ETFB (P38117)
R51W (p.Arg51Trp) in ETFB (P38117) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- NCI-TCGA Cosmic COSV5853
- cosmic curated COSV58536
- TOPMed rs1308673942
- gnomAD rs1308673942
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.64
- AlphaMissense 0.73
- MetaLR 0.76
- MetaSVM 0.61
- CADD 27.60
- PolyPhen-2 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available