I48T (p.Ile48Thr) variant of SDHAF2 (Q9NX18)
I48T (p.Ile48Thr) 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 0.37 / 1. The record also includes published literature and structural context.
I48T (p.Ile48Thr) variant details
- p.Ile48Thr
- rs1590764818
- ClinGen CA380683305
- ClinVar RCV001011590
- Ensembl rs1590764818
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.17
- MetaLR 0.32
- MetaSVM -0.68
- PolyPhen-2 0.01
- SIFT 0.24
- EVE 0.11
- 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)