M47L (p.Met47Leu) variant of SDHAF2 (Q9NX18)
M47L (p.Met47Leu) 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.
M47L (p.Met47Leu) variant details
- p.Met47Leu
- rs111402137
- ClinGen CA380683279
- ClinVar RCV003301600
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.06
- MetaLR 0.28
- MetaSVM -0.83
- PolyPhen-2 0.00
- SIFT 0.38
- EVE 0.09
- 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)