S40N (p.Ser40Asn) variant of STAT5B (P51692)
S40N (p.Ser40Asn) in STAT5B (P51692) 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.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- gnomAD rs1281205149
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.25
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available