I31M (p.Ile31Met) variant of SDHD (O14521)
I31M (p.Ile31Met) in SDHD (O14521) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I31M (p.Ile31Met) variant details
- p.Ile31Met
- rs766096986
- ClinGen CA382616979
- cosmic curated COSV54777
- ClinVar RCV002373905
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carney-Stratakis synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.55
- CADD 18.30
- PolyPhen-2 0.10
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Pheochromocytoma; Carne)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 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)