F31L (p.Phe31Leu) variant of SDHAF2 (Q9NX18)
F31L (p.Phe31Leu) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- ExAC rs752477657
- gnomAD rs752477657
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.10
- MetaLR 0.27
- MetaSVM -0.94
- CADD 9.98
- PolyPhen-2 0.00
- SIFT 0.77
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available