H47R (p.His47Arg) variant of RAD51 (Q06609)
H47R (p.His47Arg) in RAD51 (Q06609) is a missense change. The available record places it in the context of Mirror movements 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
H47R (p.His47Arg) variant details
- p.His47Arg
- rs768411477
- ClinGen CA347169
- cosmic curated COSV10940
- ClinVar RCV000192085
- not provided
- Mirror movements 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.31
- CADD 22.50
- PolyPhen-2 0.04
- SIFT 0.23
- ClinVar: not provided (Mirror movements 2)
- UniProt: Not provided
- Population evidence available
- Structural context available
- Cited in: Congenital Mirror Movements. (PMID 25763452)