P45T (p.Pro45Thr) variant of FAN1 (Fanconi-associated nuclease 1)
P45T (p.Pro45Thr) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P45T (p.Pro45Thr) variant details
- p.Pro45Thr
- gnomAD 15-30904796-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.66
- CADD 24.20
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available