N23N (p.Asn23Asn) variant of BLM (RecQ-like DNA helicase BLM)
N23N (p.Asn23Asn) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
N23N (p.Asn23Asn) variant details
- p.Asn23Asn
- gnomAD 15-90747461-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 8.98
- Population evidence available
- Structural context available
- Literature evidence available