P115S (p.Pro115Ser) variant of ETV4 (ETS translocation variant 4)
P115S (p.Pro115Ser) in ETV4 (ETS translocation variant 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
P115S (p.Pro115Ser) variant details
- p.Pro115Ser
- rs151095895
- ClinGen CA8592380
- ClinVar RCV000908075
- 1000Genomes rs151095895
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.04
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.22
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 1.2e-05)