A38V (p.Ala38Val) variant of EPAS1 (Q99814)
A38V (p.Ala38Val) in EPAS1 (Q99814) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- NCI-TCGA Cosmic COSV9976
- Ensembl rs2103616221
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.21
- MetaSVM -0.50
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available