S28N (p.Ser28Asn) variant of EPAS1 (Q99814)
S28N (p.Ser28Asn) in EPAS1 (Q99814) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- Ensembl rs2103616176
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.22
- MetaLR 0.17
- MetaSVM -0.76
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available