I30V (p.Ile30Val) variant of FAN1 (Fanconi-associated nuclease 1)
I30V (p.Ile30Val) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I30V (p.Ile30Val) variant details
- p.Ile30Val
- ExAC rs751410785
- TOPMed rs751410785
- gnomAD rs751410785
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.37
- CADD 17.50
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available