L65F (p.Leu65Phe) variant of SDHB (P21912)
L65F (p.Leu65Phe) in SDHB (P21912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L65F (p.Leu65Phe) variant details
- p.Leu65Phe
- rs786202185
- ClinGen CA015581
- ClinVar RCV000164884
- ClinVar RCV000560019
- Uncertain significance
- Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointestinal stromal tum
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.78
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 0.94
- CADD 23.50
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Mitochondrial complex 2 deficiency, nuclear type 4; Gastrointest)
- EBI: Variant of uncertain significance (in PPGL4)
- UniProt: Uncertain significance (in PPGL4)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)