K26T (p.Lys26Thr) variant of RAD51C (O43502)
K26T (p.Lys26Thr) 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 0.32 / 1. The record also includes population frequency data and structural context.
K26T (p.Lys26Thr) variant details
- p.Lys26Thr
- ExAC rs746026526
- TOPMed rs746026526
- gnomAD rs746026526
- Uncertain significance
- Fanconi anemia complementation group O
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Uncertain significance (Fanconi anemia complementation group O)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available