S16R (p.Ser16Arg) variant of FAN1 (Fanconi-associated nuclease 1)
S16R (p.Ser16Arg) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S16R (p.Ser16Arg) variant details
- p.Ser16Arg
- ExAC rs774923094
- gnomAD rs774923094
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.44
- CADD 23.20
- PolyPhen-2 0.95
- SIFT 0.08
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available