D135N (p.Asp135Asn) variant of STAT5B (P51692)
D135N (p.Asp135Asn) in STAT5B (P51692) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D135N (p.Asp135Asn) variant details
- p.Asp135Asn
- rs760681474
- ExAC rs760681474
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available