S2P (p.Ser2Pro) variant of FANCA (Fanconi anemia group A protein)
S2P (p.Ser2Pro) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S2P (p.Ser2Pro) variant details
- p.Ser2Pro
- TOPMed rs2041144813
- gnomAD rs2041144813
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.12
- CADD 5.86
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available