P58P (p.Pro58Pro) variant of BLM (RecQ-like DNA helicase BLM)
P58P (p.Pro58Pro) in BLM (RecQ-like DNA helicase BLM) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P58P (p.Pro58Pro) variant details
- p.Pro58Pro
- rs576862402
- gnomAD 15-90749442-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 3.96
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available