D72Y (p.Asp72Tyr) variant of ETV5 (ETS translocation variant 5)
D72Y (p.Asp72Tyr) in ETV5 (ETS translocation variant 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D72Y (p.Asp72Tyr) variant details
- p.Asp72Tyr
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.51
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)