N124D (p.Asn124Asp) variant of STAT5B (P51692)
N124D (p.Asn124Asp) in STAT5B (P51692) is a missense change. Clinical records from ClinVar 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 0.22 / 1. The record also includes population frequency data and structural context.
N124D (p.Asn124Asp) variant details
- p.Asn124Asp
- ESP rs374711620
- TOPMed rs374711620
- gnomAD rs374711620
- Uncertain significance
- Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- CADD 21.50
- PolyPhen-2 0.10
- SIFT 0.40
- ClinVar: Uncertain significance (Growth hormone insensitivity with immune dysregulation 1, autoso)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available