P26L (p.Pro26Leu) variant of FH (P07954)
P26L (p.Pro26Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs187226800
- ClinGen CA289160
- ClinVar RCV000121090
- ClinVar RCV000227292
- Benign/Likely benign
- Fumarase deficiency; Hereditary leiomyomatosis and renal cell cancer; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.39
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Benign/Likely benign (Fumarase deficiency; Hereditary leiomyomatosis and renal cell ca)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAI population (allele frequency 0.056)
- 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)