W15S (p.Trp15Ser) variant of FANCC (Fanconi anemia group C protein)
W15S (p.Trp15Ser) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
W15S (p.Trp15Ser) variant details
- p.Trp15Ser
- gnomAD rs1831179714
- Uncertain significance
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.70
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available