A117V (p.Ala117Val) variant of STAT4 (Q14765)
A117V (p.Ala117Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- rs2125268711
- ClinGen CA349920420
- ClinVar RCV001920157
- Ensembl rs2125268711
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.24
- MetaLR 0.19
- MetaSVM -0.89
- PolyPhen-2 0.99
- SIFT 0.16
- MutPred 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available