N125S (p.Asn125Ser) variant of STAT5B (P51692)
N125S (p.Asn125Ser) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N125S (p.Asn125Ser) variant details
- p.Asn125Ser
- TOPMed rs1318804601
- gnomAD rs1318804601
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.07
- CADD 23.70
- PolyPhen-2 0.06
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available