S78N (p.Ser78Asn) variant of ETV1 (ETS translocation variant 1)
S78N (p.Ser78Asn) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S78N (p.Ser78Asn) variant details
- p.Ser78Asn
- cosmic curated COSV54137
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.20
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available