S62L (p.Ser62Leu) variant of IFNAR1 (Interferon alpha/beta receptor 1)
S62L (p.Ser62Leu) in IFNAR1 (Interferon alpha/beta receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
S62L (p.Ser62Leu) variant details
- p.Ser62Leu
- gnomAD 21-33335632-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.54
- MetaLR 0.59
- MetaSVM 0.10
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 6.4e-06)
- Structural context available
- Literature evidence available