A3P (p.Ala3Pro) variant of EPAS1 (Q99814)
A3P (p.Ala3Pro) in EPAS1 (Q99814) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- ExAC rs759895556
- TOPMed rs759895556
- gnomAD rs759895556
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.16
- MetaLR 0.16
- MetaSVM -0.68
- CADD 29.80
- SIFT 0.15
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available