S9P (p.Ser9Pro) variant of FANCA (Fanconi anemia group A protein)
S9P (p.Ser9Pro) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- ExAC rs777991781
- TOPMed rs777991781
- gnomAD rs777991781
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.17
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Ashkenazi Jewish population (allele frequency 4.1e-05)
- Structural context available