L26F (p.Leu26Phe) variant of SDHAF2 (Q9NX18)
L26F (p.Leu26Phe) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
L26F (p.Leu26Phe) variant details
- p.Leu26Phe
- rs751530375
- ClinGen CA380682920
- ClinVar RCV004522227
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.07
- MetaLR 0.28
- MetaSVM -0.92
- PolyPhen-2 0.00
- SIFT 0.14
- EVE 0.12
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)