P24S (p.Pro24Ser) variant of SDHAF2 (Q9NX18)
P24S (p.Pro24Ser) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
P24S (p.Pro24Ser) variant details
- p.Pro24Ser
- rs2540124046
- ClinGen CA380682890
- ClinVar RCV004522226
- NCI-TCGA Cosmic COSV5709
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.26
- MetaLR 0.44
- MetaSVM -0.26
- CADD 22.20
- PolyPhen-2 0.54
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)