L22* (p.Leu22Ter) variant of FH (P07954)
L22* (p.Leu22Ter) in FH (P07954) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
L22* (p.Leu22Ter) variant details
- p.Leu22Ter
- rs1031919395
- ClinGen CA40338006
- ClinVar RCV001025446
- ClinVar RCV002508277
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- AlphaMissense 0.06
- MetaLR 0.91
- MetaSVM 1.12
- CADD 33.00
- PolyPhen-2 0.00
- SIFT 0.23
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)