V101A (p.Val101Ala) variant of STAT4 (Q14765)
V101A (p.Val101Ala) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V101A (p.Val101Ala) variant details
- p.Val101Ala
- rs778453112
- ClinGen CA2030925
- ClinVar RCV001938583
- ClinVar RCV006327349
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.31
- MetaLR 0.10
- MetaSVM -0.91
- CADD 23.50
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available