N7I (p.Asn7Ile) variant of BLM (RecQ-like DNA helicase BLM)
N7I (p.Asn7Ile) in BLM (RecQ-like DNA helicase BLM) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
N7I (p.Asn7Ile) variant details
- p.Asn7Ile
- gnomAD 15-90747408-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available