P18S (p.Pro18Ser) variant of RAD51C (O43502)
P18S (p.Pro18Ser) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Childhood neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs547142453
- ClinGen CA8677131
- cosmic curated COSV53617
- ClinVar RCV000215646
- Conflicting interpretations
- not provided; not specified; Childhood neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.21
- CADD 24.00
- PolyPhen-2 0.61
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Childhood neoplasm)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)