N124K (p.Asn124Lys) variant of STAT5B (P51692)
N124K (p.Asn124Lys) in STAT5B (P51692) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N124K (p.Asn124Lys) variant details
- p.Asn124Lys
- gnomAD rs1396882691
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.05
- CADD 19.30
- PolyPhen-2 0.10
- SIFT 0.56
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available