R18C (p.Arg18Cys) variant of FANCA (Fanconi anemia group A protein)
R18C (p.Arg18Cys) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R18C (p.Arg18Cys) variant details
- p.Arg18Cys
- gnomAD rs1287222023
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.08
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available