S100R (p.Ser100Arg) variant of ETV1 (ETS translocation variant 1)
S100R (p.Ser100Arg) in ETV1 (ETS translocation variant 1) 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 0.18 / 1. The record also includes population frequency data and structural context.
S100R (p.Ser100Arg) variant details
- p.Ser100Arg
- TOPMed rs1442372291
- gnomAD rs1442372291
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.14
- CADD 15.10
- PolyPhen-2 0.08
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in dbSNP:rs9639168)
- UniProt: Uncertain significance (in dbSNP:rs9639168)
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available