P152Q (p.Pro152Gln) variant of ETV5 (ETS translocation variant 5)
P152Q (p.Pro152Gln) in ETV5 (ETS translocation variant 5) 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 0.31 / 1. The record also includes population frequency data.
P152Q (p.Pro152Gln) variant details
- p.Pro152Gln
- rs537105512
- ClinGen CA2742634
- cosmic curated COSV60500
- ClinVar RCV004325720
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.10
- CADD 23.80
- PolyPhen-2 0.53
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)