S20G (p.Ser20Gly) variant of FAN1 (Fanconi-associated nuclease 1)
S20G (p.Ser20Gly) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S20G (p.Ser20Gly) variant details
- p.Ser20Gly
- ExAC rs753170032
- gnomAD rs753170032
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.11
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available