S35T (p.Ser35Thr) variant of FANCD2 (Fanconi anemia group D2 protein)
S35T (p.Ser35Thr) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S35T (p.Ser35Thr) variant details
- p.Ser35Thr
- ExAC rs773847165
- TOPMed rs773847165
- gnomAD rs773847165
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.07
- MetaLR 0.17
- MetaSVM -0.89
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available