K41Q (p.Lys41Gln) variant of FAN1 (Fanconi-associated nuclease 1)
K41Q (p.Lys41Gln) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
K41Q (p.Lys41Gln) variant details
- p.Lys41Gln
- gnomAD 15-30904784-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.45
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available