N120D (p.Asn120Asp) variant of STAT4 (Q14765)
N120D (p.Asn120Asp) 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 0.26 / 1. The record also includes population frequency data and structural context.
N120D (p.Asn120Asp) variant details
- p.Asn120Asp
- rs763055396
- ClinGen CA2030918
- ClinVar RCV002605053
- ExAC rs763055396
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.06
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available