A130V (p.Ala130Val) variant of STAT5B (P51692)
A130V (p.Ala130Val) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Growth hormone insensitivity with immune dysregulation 1, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A130V (p.Ala130Val) variant details
- p.Ala130Val
- rs2277619
- ClinGen CA8574284
- ClinVar RCV001433639
- UniProt VAR 052074
- Likely benign
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.07
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Likely benign (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Likely benign (in dbSNP:rs2277619)
- UniProt: Likely benign (in dbSNP:rs2277619)
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available