M10T (p.Met10Thr) variant of RAD51C (O43502)
M10T (p.Met10Thr) 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; Breast-ovarian cancer, familial, suscept. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
M10T (p.Met10Thr) variant details
- p.Met10Thr
- rs730881936
- ClinGen CA292046852
- ClinVar RCV001371879
- ClinVar RCV003462938
- Uncertain significance
- Fanconi anemia complementation group O; Breast-ovarian cancer, familial, suscept
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.29
- AlphaMissense 0.36
- MetaLR 0.28
- MetaSVM -0.87
- CADD 28.10
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group O; Breast-ovarian cancer, f)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)