P42L (p.Pro42Leu) variant of EPAS1 (Q99814)
P42L (p.Pro42Leu) 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 0.65 / 1. The record also includes population frequency data and structural context.
P42L (p.Pro42Leu) variant details
- p.Pro42Leu
- NCI-TCGA TCGA novel
- Ensembl rs2103616240
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.67
- MetaLR 0.23
- MetaSVM -0.36
- CADD 27.10
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BRAHUI population (allele frequency 0.022)
- Structural context available