K20N (p.Lys20Asn) variant of SDHA (P31040)
K20N (p.Lys20Asn) in SDHA (P31040) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K20N (p.Lys20Asn) variant details
- p.Lys20Asn
- rs1734504425
- ClinGen CA359007464
- ClinVar RCV002943742
- ClinVar RCV003308370
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.02
- CADD 9.96
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- 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)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)