R25W (p.Arg25Trp) variant of ETV5 (ETS translocation variant 5)
R25W (p.Arg25Trp) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
R25W (p.Arg25Trp) variant details
- p.Arg25Trp
- rs112315086
- ClinGen CA2742756
- cosmic curated COSV60500
- ClinVar RCV004166188
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.34
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)