K24E (p.Lys24Glu) variant of FAN1 (Fanconi-associated nuclease 1)
K24E (p.Lys24Glu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- ExAC rs750016168
- gnomAD rs750016168
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.30
- CADD 22.50
- PolyPhen-2 0.20
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available