N66I (p.Asn66Ile) variant of BLM (RecQ-like DNA helicase BLM)
N66I (p.Asn66Ile) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
N66I (p.Asn66Ile) variant details
- p.Asn66Ile
- gnomAD 15-90749465-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.15
- CADD 19.00
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available