S11L (p.Ser11Leu) variant of FANCA (Fanconi anemia group A protein)
S11L (p.Ser11Leu) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S11L (p.Ser11Leu) variant details
- p.Ser11Leu
- TOPMed rs1019317682
- gnomAD rs1019317682
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.20
- CADD 8.51
- PolyPhen-2 0.02
- SIFT 0.61
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00085)
- Structural context available