K50T (p.Lys50Thr) variant of FANCD2 (Fanconi anemia group D2 protein)
K50T (p.Lys50Thr) 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.
K50T (p.Lys50Thr) variant details
- p.Lys50Thr
- gnomAD 3-10032916-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- CADD 13.70
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available