N66Y (p.Asn66Tyr) variant of BLM (RecQ-like DNA helicase BLM)
N66Y (p.Asn66Tyr) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N66Y (p.Asn66Tyr) variant details
- p.Asn66Tyr
- gnomAD 15-90749464-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available