D46N (p.Asp46Asn) variant of STAT6 (P42226)
D46N (p.Asp46Asn) in STAT6 (P42226) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- rs780257871
- NCI-TCGA Cosmic COSV5567
- cosmic curated COSV55670
- ExAC rs780257871
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.20
- CADD 16.60
- PolyPhen-2 0.41
- SIFT 0.67
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available