K29K (p.Lys29Lys) variant of BLM (RecQ-like DNA helicase BLM)
K29K (p.Lys29Lys) 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.
K29K (p.Lys29Lys) variant details
- p.Lys29Lys
- rs1895535691
- gnomAD 15-90747479-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.43
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available