M50L (p.Met50Leu) variant of FAN1 (Fanconi-associated nuclease 1)
M50L (p.Met50Leu) 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.
M50L (p.Met50Leu) variant details
- p.Met50Leu
- ExAC rs749998047
- gnomAD rs749998047
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.41
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available