S29Y (p.Ser29Tyr) variant of FAN1 (Fanconi-associated nuclease 1)
S29Y (p.Ser29Tyr) in FAN1 (Fanconi-associated nuclease 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S29Y (p.Ser29Tyr) variant details
- p.Ser29Tyr
- rs199574217
- NCI-TCGA Cosmic COSV6295
- gnomAD rs199574217
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.52
- CADD 24.20
- PolyPhen-2 0.89
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available