K33R (p.Lys33Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
K33R (p.Lys33Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- rs34691009
- UniProt VAR 025827
- 1000Genomes rs34691009
- gnomAD rs34691009
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Literature evidence available