N28S (p.Asn28Ser) variant of ETV1 (ETS translocation variant 1)
N28S (p.Asn28Ser) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N28S (p.Asn28Ser) variant details
- p.Asn28Ser
- ExAC rs777711910
- gnomAD rs777711910
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.17
- CADD 19.30
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available