A630P (p.Ala630Pro) variant of STAT5B (P51692)
A630P (p.Ala630Pro) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic 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 0.95 / 1. The record also includes published literature and structural context.
A630P (p.Ala630Pro) variant details
- p.Ala630Pro
- rs121908501
- ClinGen CA117689
- ClinVar RCV000006048
- UniProt VAR 018728
- Pathogenic
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.955
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Pathogenic (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Pathogenic (in GHISID1)
- UniProt: Pathogenic (in GHISID1)
- Structural context available
- Cited in: Growth hormone insensitivity associated with a STAT5b mutation. (PMID 13679528)
- Cited in: A mutant signal transducer and activator of transcription 5b, associated with growth hormone insensitivity and… (PMID 16464942)