N66N (p.Asn66Asn) variant of BLM (RecQ-like DNA helicase BLM)
N66N (p.Asn66Asn) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
N66N (p.Asn66Asn) variant details
- p.Asn66Asn
- rs1410899563
- gnomAD 15-90749466-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.121
- CADD 5.65
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available