S55P (p.Ser55Pro) variant of FANCD2 (Fanconi anemia group D2 protein)
S55P (p.Ser55Pro) in FANCD2 (Fanconi anemia group D2 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S55P (p.Ser55Pro) variant details
- p.Ser55Pro
- gnomAD 3-10032930-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 23.50
- PolyPhen-2 0.89
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available