F42I (p.Phe42Ile) variant of SDHB (P21912)
F42I (p.Phe42Ile) in SDHB (P21912) 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 0.74 / 1. The record also includes published literature and structural context.
F42I (p.Phe42Ile) variant details
- p.Phe42Ile
- rs767667150
- ClinGen CA338228194
- ClinVar RCV002409688
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.04
- PolyPhen-2 0.64
- SIFT 0.01
- EVE 0.22
- 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)