V842I (p.Val842Ile) variant of RAD50 (DNA repair protein RAD50)
V842I (p.Val842Ile) in RAD50 (DNA repair protein RAD50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Nijmegen breakage syndrome-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
V842I (p.Val842Ile) variant details
- p.Val842Ile
- rs2149847342
- ClinGen CA360955970
- ClinVar RCV001374466
- Ensembl rs2149847342
- Pathogenic
- Nijmegen breakage syndrome-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.06
- CADD 32.00
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Pathogenic (Nijmegen breakage syndrome-like disorder)
- EBI: Pathogenic (in dbSNP:rs28903093)
- UniProt: Pathogenic (in dbSNP:rs28903093)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Human RAD50 deficiency: Confirmation of a distinctive phenotype. (PMID 32212377)