H104R (p.His104Arg) variant of ETV5 (ETS translocation variant 5)
H104R (p.His104Arg) 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 0.30 / 1.
H104R (p.His104Arg) variant details
- p.His104Arg
- rs752940067
- ClinGen CA89856278
- ClinVar RCV004239652
- Ensembl rs752940067
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.08
- PolyPhen-2 0.00
- SIFT 0.64
- MutPred 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance