N5S (p.Asn5Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
N5S (p.Asn5Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N5S (p.Asn5Ser) variant details
- p.Asn5Ser
- ExAC rs752706988
- gnomAD rs752706988
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.26
- CADD 22.70
- PolyPhen-2 0.90
- SIFT 0.45
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available