S20R (p.Ser20Arg) variant of SDHAF2 (Q9NX18)
S20R (p.Ser20Arg) in SDHAF2 (Q9NX18) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- rs2540124020
- ClinGen CA380682830
- ClinVar RCV004522225
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.20
- MetaLR 0.19
- MetaSVM -1.00
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)