R14P (p.Arg14Pro) variant of FAN1 (Fanconi-associated nuclease 1)
R14P (p.Arg14Pro) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- ExAC rs763284160
- gnomAD rs763284160
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.35
- CADD 26.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available