P44S (p.Pro44Ser) variant of EPAS1 (Q99814)
P44S (p.Pro44Ser) 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 0.47 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs1464807024
- NCI-TCGA Cosmic COSV9976
- gnomAD rs1464807024
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.33
- MetaLR 0.16
- MetaSVM -0.82
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available