L19P (p.Leu19Pro) variant of HNF4A (P41235)
L19P (p.Leu19Pro) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs2063407237
- ClinGen CA409103125
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- Uncertain significance/Uncertain risk allele
- Maturity-onset diabetes of the young; Maturity-onset diabetes of the young type
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.74
- MetaLR 0.88
- MetaSVM 0.88
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance/Uncertain risk allele (Maturity-onset diabetes of the young; Maturity-onset diabetes of)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Nonsyndromic Genetic Hyperinsulinism Overview. (PMID 20301549)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)