S100G (p.Ser100Gly) variant of ETV1 (ETS translocation variant 1)
S100G (p.Ser100Gly) in ETV1 (ETS translocation variant 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S100G (p.Ser100Gly) variant details
- p.Ser100Gly
- rs9639168
- cosmic curated COSV54136
- UniProt VAR 048948
- 1000Genomes rs9639168
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.14
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID 14702039)