D9N (p.Asp9Asn) variant of HNF4A (P41235)
D9N (p.Asp9Asn) in HNF4A (P41235) 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 0.74 / 1. The record also includes population frequency data and structural context.
D9N (p.Asp9Asn) variant details
- p.Asp9Asn
- rs1463436840
- NCI-TCGA Cosmic COSV5738
- cosmic curated COSV57388
- TOPMed rs1463436840
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.63
- MetaLR 0.83
- MetaSVM 0.83
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available