W957G (p.Trp957Gly) variant of FANCA (Fanconi anemia group A protein)
W957G (p.Trp957Gly) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Fanconi anemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
W957G (p.Trp957Gly) variant details
- p.Trp957Gly
- gnomAD rs1250074064
- Likely pathogenic
- Fanconi anemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.87
- CADD 28.80
- ClinVar: Likely pathogenic (Fanconi anemia)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available