P52S (p.Pro52Ser) variant of FAN1 (Fanconi-associated nuclease 1)
P52S (p.Pro52Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P52S (p.Pro52Ser) variant details
- p.Pro52Ser
- ExAC rs766068846
- gnomAD rs766068846
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available