A107S (p.Ala107Ser) variant of ETV5 (ETS translocation variant 5)
A107S (p.Ala107Ser) 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 0.24 / 1. The record also includes population frequency data.
A107S (p.Ala107Ser) variant details
- p.Ala107Ser
- rs745776119
- ClinGen CA89856277
- ClinVar RCV004364116
- ExAC rs745776119
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.02
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)