I115V (p.Ile115Val) variant of STAT4 (Q14765)
I115V (p.Ile115Val) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
I115V (p.Ile115Val) variant details
- p.Ile115Val
- rs3024839
- ClinGen CA2030920
- ClinVar RCV000917583
- UniProt VAR 020190
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.18
- MetaLR 0.17
- MetaSVM -0.58
- CADD 24.20
- PolyPhen-2 0.76
- SIFT 0.06
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs3024839)
- UniProt: Likely benign (in dbSNP:rs3024839)
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available