L21F (p.Leu21Phe) variant of SDHD (O14521)
L21F (p.Leu21Phe) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Carney-Stratakis syndrome; Mitochondrial complex 2 deficiency, nuc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs1592778703
- ClinGen CA382616920
- ClinVar RCV001024998
- ClinVar RCV002236269
- Uncertain significance
- not provided; Carney-Stratakis syndrome; Mitochondrial complex 2 deficiency, nuc
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.46
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not provided; Carney-Stratakis syndrome; Mitochondrial complex 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-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)