N120S (p.Asn120Ser) variant of ETV1 (ETS translocation variant 1)
N120S (p.Asn120Ser) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N120S (p.Asn120Ser) variant details
- p.Asn120Ser
- ExAC rs746647484
- gnomAD rs746647484
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.03
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.84
- Population evidence available
- Structural context available