A50T (p.Ala50Thr) variant of HNF4A (P41235)
A50T (p.Ala50Thr) 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 0.41 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- rs1223493898
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- TOPMed rs1223493898
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.19
- MetaLR 0.52
- MetaSVM -0.51
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.82
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available