R250Q (p.Arg250Gln) variant of RAD51 (Q06609)
R250Q (p.Arg250Gln) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Mirror movements 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
R250Q (p.Arg250Gln) variant details
- p.Arg250Gln
- rs1555429623
- ClinGen CA391759198
- cosmic curated COSV51113
- ClinVar RCV000542570
- Pathogenic
- Mirror movements 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.79
- CADD 32.00
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Pathogenic (Mirror movements 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations. (PMID 25813273)
- Cited in: Congenital Mirror Movements. (PMID 25763452)