A149V (p.Ala149Val) variant of STAT4 (Q14765)
A149V (p.Ala149Val) in STAT4 (Q14765) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A149V (p.Ala149Val) variant details
- p.Ala149Val
- cosmic curated COSV61832
- ExAC rs778170459
- TOPMed rs778170459
- gnomAD rs778170459
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.10
- MetaLR 0.14
- MetaSVM -1.01
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.60
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available