H59P (p.His59Pro) variant of FAN1 (Fanconi-associated nuclease 1)
H59P (p.His59Pro) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
H59P (p.His59Pro) variant details
- p.His59Pro
- gnomAD rs1394113080
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.93
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available