Y112H (p.Tyr112His) variant of ETV5 (ETS translocation variant 5)
Y112H (p.Tyr112His) 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 0.39 / 1. The record also includes population frequency data.
Y112H (p.Tyr112His) variant details
- p.Tyr112His
- rs200054486
- ClinGen CA2742671
- ClinVar RCV004383177
- ExAC rs200054486
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)