A18V (p.Ala18Val) variant of SDHD (O14521)
A18V (p.Ala18Val) 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; Paragangliomas with sensorineural heari. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- rs192332761
- ClinGen CA071521
- cosmic curated COSV99736
- ClinVar RCV000344579
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Paragangliomas with sensorineural heari
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.48
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Paragangliomas with sen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- 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)