K10R (p.Lys10Arg) variant of FAN1 (Fanconi-associated nuclease 1)
K10R (p.Lys10Arg) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
K10R (p.Lys10Arg) variant details
- p.Lys10Arg
- gnomAD 15-30904692-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- REVEL 0.16
- CADD 3.39
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available