P34L (p.Pro34Leu) variant of FH (P07954)
P34L (p.Pro34Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- rs1398860901
- ClinGen CA345442702
- ClinVar RCV002256895
- ClinVar RCV002551222
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.24
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)