A46V (p.Ala46Val) variant of STAT4 (Q14765)
A46V (p.Ala46Val) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- rs1003116465
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Ensembl rs1003116465
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.25
- MetaLR 0.26
- MetaSVM -0.73
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available