K9I (p.Lys9Ile) variant of FANCD2 (Fanconi anemia group D2 protein)
K9I (p.Lys9Ile) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
K9I (p.Lys9Ile) variant details
- p.Lys9Ile
- Ensembl rs1575723630
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 15.80
- PolyPhen-2 0.29
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available