V56M (p.Val56Met) variant of HNF4A (P41235)
V56M (p.Val56Met) in HNF4A (P41235) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
V56M (p.Val56Met) variant details
- p.Val56Met
- rs2071197
- gnomAD 20-44401795-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0807
- CADD 0.01
- Most common in the HGDP:SURUI population (allele frequency 1)
- Structural context available
- Cited in: Association of Hepatic Nuclear Factor 4 Alpha Gene Polymorphisms With Free Imatinib Plasma Levels and Adverse Reactions… (PMID 31045869)
- Cited in: Association of STAT-3 rs1053004 and VDR rs11574077 With FOLFIRI-Related Gastrointestinal Toxicity in Metastatic… (PMID 29706892)