S2T (p.Ser2Thr) variant of FANCA (Fanconi anemia group A protein)
S2T (p.Ser2Thr) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- rs2041144813
- ClinGen CA397484662
- ClinVar RCV003237514
- TOPMed rs2041144813
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.15
- CADD 7.72
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available