P51H (p.Pro51His) variant of HNF4A (P41235)
P51H (p.Pro51His) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P51H (p.Pro51His) variant details
- p.Pro51His
- rs763529905
- ClinGen CA9870163
- ClinVar RCV002680738
- ClinVar RCV004999793
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.32
- MetaLR 0.72
- MetaSVM 0.30
- CADD 22.60
- PolyPhen-2 0.23
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available