V89M (p.Val89Met) variant of ETFB (P38117)
V89M (p.Val89Met) in ETFB (P38117) 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 0.81 / 1. The record also includes population frequency data and structural context.
V89M (p.Val89Met) variant details
- p.Val89Met
- rs751703448
- NCI-TCGA Cosmic COSV5853
- cosmic curated COSV58536
- ExAC rs751703448
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.84
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available