L60I (p.Leu60Ile) variant of FAN1 (Fanconi-associated nuclease 1)
L60I (p.Leu60Ile) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L60I (p.Leu60Ile) variant details
- p.Leu60Ile
- gnomAD rs1327730619
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- CADD 17.50
- PolyPhen-2 0.02
- SIFT 0.51
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available