T32R (p.Thr32Arg) variant of FANCD2 (Fanconi anemia group D2 protein)
T32R (p.Thr32Arg) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T32R (p.Thr32Arg) variant details
- p.Thr32Arg
- gnomAD 3-10032862-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.34
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available