G12S (p.Gly12Ser) variant of FANCA (Fanconi anemia group A protein)
G12S (p.Gly12Ser) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- Ensembl rs2041141674
- Uncertain significance
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.12
- CADD 0.99
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Fanconi anemia complementation group A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.9e-05)
- Structural context available