D20T (p.Asp20Thr) variant of HNF4A (P41235)
D20T (p.Asp20Thr) in HNF4A (P41235) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
D20T (p.Asp20Thr) variant details
- p.Asp20Thr
- rs2063407285
- gnomAD 20-44401428-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.643
- CADD 27.10
- Population evidence available
- Structural context available
- Literature evidence available