C11C (p.Cys11Cys) variant of SDHD (O14521)
C11C (p.Cys11Cys) in SDHD (O14521) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C11C (p.Cys11Cys) variant details
- p.Cys11Cys
- rs104894309
- gnomAD 11-112086940-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.253
- CADD 13.30
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)