K38K (p.Lys38Lys) variant of BLM (RecQ-like DNA helicase BLM)
K38K (p.Lys38Lys) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
K38K (p.Lys38Lys) variant details
- p.Lys38Lys
- rs770017301
- gnomAD 15-90749382-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.76
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available