K21E (p.Lys21Glu) variant of FAN1 (Fanconi-associated nuclease 1)
K21E (p.Lys21Glu) 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.
K21E (p.Lys21Glu) variant details
- p.Lys21Glu
- TOPMed rs1282310638
- gnomAD rs1282310638
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available