W5R (p.Trp5Arg) variant of FANCA (Fanconi anemia group A protein)
W5R (p.Trp5Arg) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
W5R (p.Trp5Arg) variant details
- p.Trp5Arg
- gnomAD rs1204745684
- Missense
- Variant Prioritization Score for Impact Estimate 0.084
- REVEL 0.09
- CADD 1.11
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available