S10C (p.Ser10Cys) variant of FANCD2 (Fanconi anemia group D2 protein)
S10C (p.Ser10Cys) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S10C (p.Ser10Cys) variant details
- p.Ser10Cys
- gnomAD rs1396558242
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 21.40
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available