R100C (p.Arg100Cys) variant of STAT5B (P51692)
R100C (p.Arg100Cys) in STAT5B (P51692) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.51 / 1. The record also includes population frequency data and structural context.
R100C (p.Arg100Cys) variant details
- p.Arg100Cys
- rs199894785
- ClinGen CA8574326
- ClinVar RCV001267796
- ESP rs199894785
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.29
- CADD 32.00
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available