T5P (p.Thr5Pro) variant of RAD51C (O43502)
T5P (p.Thr5Pro) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi anemia complementation group O. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
T5P (p.Thr5Pro) variant details
- p.Thr5Pro
- gnomAD rs1314517659
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.04
- AlphaMissense 0.09
- MetaLR 0.05
- MetaSVM -1.08
- CADD 15.80
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available