A20V (p.Ala20Val) variant of STAT5B (P51692)
A20V (p.Ala20Val) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Growth hormone insensitivity with immune dysregulation 1, autosoma. 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.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- rs935891734
- ClinGen CA290748980
- ClinVar RCV000996546
- ClinVar RCV003505152
- Uncertain significance
- not provided; Growth hormone insensitivity with immune dysregulation 1, autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (not provided; Growth hormone insensitivity with immune dysregula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available