F35L (p.Phe35Leu) variant of SDHA (P31040)
F35L (p.Phe35Leu) in SDHA (P31040) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- ExAC rs765434536
- gnomAD rs765434536
- Uncertain significance
- Mitochondrial complex II deficiency, nuclear type 1; Pheochromocytoma/paragangli
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.13
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Mitochondrial complex II deficiency, nuclear type 1; Pheochromoc)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available