P39L (p.Pro39Leu) variant of FAN1 (Fanconi-associated nuclease 1)
P39L (p.Pro39Leu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P39L (p.Pro39Leu) variant details
- p.Pro39Leu
- gnomAD 15-30904779-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.77
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available