S53I (p.Ser53Ile) variant of HNF4A (P41235)
S53I (p.Ser53Ile) 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 0.33 / 1. The record also includes population frequency data and structural context.
S53I (p.Ser53Ile) variant details
- p.Ser53Ile
- NCI-TCGA Cosmic COSV1002
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.27
- MetaLR 0.67
- MetaSVM 0.18
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.19
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available