I61N (p.Ile61Asn) variant of EPAS1 (Q99814)
I61N (p.Ile61Asn) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I61N (p.Ile61Asn) variant details
- p.Ile61Asn
- gnomAD 2-46347028-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.57
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available