K4Q (p.Lys4Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
K4Q (p.Lys4Gln) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- gnomAD 3-10028667-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available