L59P (p.Leu59Pro) variant of HNF4A (P41235)
L59P (p.Leu59Pro) in HNF4A (P41235) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
L59P (p.Leu59Pro) variant details
- p.Leu59Pro
- NCI-TCGA TCGA novel
- Ensembl rs2063496560
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.76
- MetaLR 0.84
- MetaSVM 0.89
- CADD 24.60
- PolyPhen-2 0.02
- SIFT 0.02
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available