R103H (p.Arg103His) variant of ETV4 (ETS translocation variant 4)
R103H (p.Arg103His) in ETV4 (ETS translocation variant 4) 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 0.19 / 1. The record also includes population frequency data.
R103H (p.Arg103His) variant details
- p.Arg103His
- rs368196782
- ClinGen CA290848797
- cosmic curated COSV60043
- ClinVar RCV004142818
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.04
- CADD 19.00
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)