D9E (p.Asp9Glu) variant of FAN1 (Fanconi-associated nuclease 1)
D9E (p.Asp9Glu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
D9E (p.Asp9Glu) variant details
- p.Asp9Glu
- TOPMed rs916700095
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.13
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available