S11P (p.Ser11Pro) variant of FH (P07954)
S11P (p.Ser11Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary leiomyomatosis and renal cell cancer; Fumarase deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S11P (p.Ser11Pro) variant details
- p.Ser11Pro
- rs1660323255
- ClinGen CA345443028
- ClinVar RCV002560652
- ClinVar RCV004571640
- Uncertain significance
- not provided; Hereditary leiomyomatosis and renal cell cancer; Fumarase deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.36
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not provided; Hereditary leiomyomatosis and renal cell cancer; F)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Fumarate Hydratase Deficiency. (PMID 20301679)
- Cited in: FH Tumor Predisposition Syndrome. (PMID 20301430)