R15* (p.Arg15Ter) variant of SDHC (Q99643)
R15* (p.Arg15Ter) in SDHC (Q99643) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- rs201286421
- ClinGen CA011542
- NCI-TCGA Cosmic COSV6136
- cosmic curated COSV61368
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.609
- AlphaMissense 0.12
- MetaLR 0.84
- MetaSVM 0.71
- CADD 36.00
- PolyPhen-2 0.25
- SIFT 0.33
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)