V134L (p.Val134Leu) variant of STAT1 (P42224)
V134L (p.Val134Leu) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V134L (p.Val134Leu) variant details
- p.Val134Leu
- rs1269987554
- ClinGen CA349925464
- ClinVar RCV002795058
- TOPMed rs1269987554
- Uncertain significance
- Immunodeficiency 31B; Mendelian susceptibility to mycobacterial diseases due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.06
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Immunodeficiency 31B; Mendelian susceptibility to mycobacterial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available