V47M (p.Val47Met) variant of EPAS1 (Q99814)
V47M (p.Val47Met) in EPAS1 (Q99814) 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 0.33 / 1. The record also includes population frequency data and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- NCI-TCGA Cosmic COSV5538
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.20
- MetaLR 0.12
- MetaSVM -0.97
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available