P18L (p.Pro18Leu) variant of FH (P07954)
P18L (p.Pro18Leu) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency; Hereditary. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- rs201887750
- ClinGen CA289157
- ClinVar RCV000121088
- ClinVar RCV000273634
- Benign/Likely benign
- Hereditary leiomyomatosis and renal cell cancer; Fumarase deficiency; Hereditary
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.39
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Benign/Likely benign (Hereditary leiomyomatosis and renal cell cancer; Fumarase defici)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- 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)