L20C (p.Leu20Cys) variant of SDHD (O14521)
L20C (p.Leu20Cys) in SDHD (O14521) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L20C (p.Leu20Cys) variant details
- p.Leu20Cys
- rs587776649
- gnomAD 11-112087860-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Familial gastrointestinal stromal tumors and germ-line mutations. (PMID 17804857)
- Cited in: Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes… (PMID 17667967)