R14L (p.Arg14Leu) variant of FAN1 (Fanconi-associated nuclease 1)
R14L (p.Arg14Leu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R14L (p.Arg14Leu) variant details
- p.Arg14Leu
- ExAC rs763284160
- gnomAD rs763284160
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.33
- CADD 23.70
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available