P27R (p.Pro27Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
P27R (p.Pro27Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- gnomAD 3-10032323-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 2.22
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available
- Literature evidence available