K41E (p.Lys41Glu) variant of FAN1 (Fanconi-associated nuclease 1)
K41E (p.Lys41Glu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
K41E (p.Lys41Glu) variant details
- p.Lys41Glu
- Ensembl rs1566905469
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.45
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available