I30T (p.Ile30Thr) variant of FAN1 (Fanconi-associated nuclease 1)
I30T (p.Ile30Thr) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- gnomAD rs1245504451
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.60
- CADD 24.60
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available