T17K (p.Thr17Lys) variant of FANCD2 (Fanconi anemia group D2 protein)
T17K (p.Thr17Lys) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T17K (p.Thr17Lys) variant details
- p.Thr17Lys
- ExAC rs771088798
- TOPMed rs771088798
- gnomAD rs771088798
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- CADD 2.80
- PolyPhen-2 0.17
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available