I40V (p.Ile40Val) variant of SDHD (O14521)
I40V (p.Ile40Val) 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; Hereditary cancer-predisposing syndrome; Pheochromocytoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I40V (p.Ile40Val) variant details
- p.Ile40Val
- rs146276662
- ClinGen CA070608
- ClinVar RCV001584275
- ClinVar RCV002232274
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome; Pheochromocytoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.51
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.53
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome; Pheochrom)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-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)