T23S (p.Thr23Ser) variant of FANCD2 (Fanconi anemia group D2 protein)
T23S (p.Thr23Ser) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
T23S (p.Thr23Ser) variant details
- p.Thr23Ser
- gnomAD rs1248049422
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 5.08
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available