E258K (p.Glu258Lys) variant of RAD51 (Q06609)
E258K (p.Glu258Lys) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
E258K (p.Glu258Lys) variant details
- p.Glu258Lys
- rs1555429629
- ClinGen CA391759368
- cosmic curated COSV51111
- ClinVar RCV000626039
- Likely pathogenic
- Fanconi anemia complementation group R
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- AlphaMissense 0.70
- MetaLR 0.31
- MetaSVM -0.46
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.49
- ClinVar: Likely pathogenic (Fanconi anemia complementation group R)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)