S48N (p.Ser48Asn) variant of EPAS1 (Q99814)
S48N (p.Ser48Asn) in EPAS1 (Q99814) is a missense change. The record also includes variant effect predictions and structural context.
S48N (p.Ser48Asn) variant details
- p.Ser48Asn
- Ensembl rs2103616274
- Missense
- MetaLR 0.19
- MetaSVM -0.69
- SIFT 0.00
- Structural context available