A17S (p.Ala17Ser) variant of SDHA (P31040)
A17S (p.Ala17Ser) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy 1GG. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- rs2477252336
- ClinGen CA359007393
- ClinVar RCV003472616
- ClinVar RCV004949097
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy 1GG
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.10
- CADD 19.70
- PolyPhen-2 0.04
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)