G114A (p.Gly114Ala) variant of ETV1 (ETS translocation variant 1)
G114A (p.Gly114Ala) in ETV1 (ETS translocation variant 1) 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 0.59 / 1. The record also includes population frequency data and structural context.
G114A (p.Gly114Ala) variant details
- p.Gly114Ala
- rs762835509
- NCI-TCGA Cosmic COSV9962
- cosmic curated COSV99622
- ExAC rs762835509
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.46
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available