C102Y (p.Cys102Tyr) variant of ETV5 (ETS translocation variant 5)
C102Y (p.Cys102Tyr) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes population frequency data.
C102Y (p.Cys102Tyr) variant details
- p.Cys102Tyr
- 1000Genomes rs202139916
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.47
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0049)