R24K (p.Arg24Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
R24K (p.Arg24Lys) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R24K (p.Arg24Lys) variant details
- p.Arg24Lys
- ExAC rs768851756
- gnomAD rs768851756
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available