S35C (p.Ser35Cys) variant of FANCD2 (Fanconi anemia group D2 protein)
S35C (p.Ser35Cys) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- cosmic curated COSV55041
- TOPMed rs2086637101
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 22.80
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available