N38T (p.Asn38Thr) variant of HNF4A (P41235)
N38T (p.Asn38Thr) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N38T (p.Asn38Thr) variant details
- p.Asn38Thr
- ExAC rs768670371
- TOPMed rs768670371
- gnomAD rs768670371
- Benign
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.19
- MetaLR 0.37
- MetaSVM -0.69
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Benign (Monogenic diabetes)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available