S26F (p.Ser26Phe) variant of FANCC (Fanconi anemia group C protein)
S26F (p.Ser26Phe) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; not provided. 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.
S26F (p.Ser26Phe) variant details
- p.Ser26Phe
- rs1800361
- ClinGen CA159399
- cosmic curated COSV10461
- ClinVar RCV000120974
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.23
- CADD 25.10
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; not prov)
- EBI: Benign (in dbSNP:rs1800361)
- UniProt: Benign (in dbSNP:rs1800361)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.066)
- Structural context available
- Cited in: Mutation analysis of the Fanconi anemia gene FACC. (PMID 8128956)
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)