Q143H (p.Gln143His) variant of STAT5B (P51692)
Q143H (p.Gln143His) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Growth hormone insensitivity with immune dysregulat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q143H (p.Gln143His) variant details
- p.Gln143His
- rs148793995
- ClinGen CA8574278
- ClinVar RCV000731369
- ClinVar RCV001086255
- Conflicting interpretations
- not specified; not provided; Growth hormone insensitivity with immune dysregulat
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.16
- CADD 21.00
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Growth hormone insensitivity with i)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available