L60H (p.Leu60His) variant of FAN1 (Fanconi-associated nuclease 1)
L60H (p.Leu60His) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
L60H (p.Leu60His) variant details
- p.Leu60His
- ExAC rs777970369
- gnomAD rs777970369
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.75
- CADD 27.50
- PolyPhen-2 0.86
- SIFT 0.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available