S16G (p.Ser16Gly) variant of FAN1 (Fanconi-associated nuclease 1)
S16G (p.Ser16Gly) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S16G (p.Ser16Gly) variant details
- p.Ser16Gly
- gnomAD rs1336635969
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.43
- CADD 26.00
- PolyPhen-2 0.66
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available