K9Q (p.Lys9Gln) variant of FANCD2 (Fanconi anemia group D2 protein)
K9Q (p.Lys9Gln) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K9Q (p.Lys9Gln) variant details
- p.Lys9Gln
- ExAC rs754809720
- gnomAD rs754809720
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- CADD 18.20
- PolyPhen-2 0.41
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available