R14C (p.Arg14Cys) variant of FAN1 (Fanconi-associated nuclease 1)
R14C (p.Arg14Cys) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- ExAC rs773502379
- TOPMed rs773502379
- gnomAD rs773502379
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.16
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available