Y54C (p.Tyr54Cys) variant of FAN1 (Fanconi-associated nuclease 1)
Y54C (p.Tyr54Cys) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y54C (p.Tyr54Cys) variant details
- p.Tyr54Cys
- ESP rs376214743
- TOPMed rs376214743
- gnomAD rs376214743
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.60
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available