K56R (p.Lys56Arg) variant of BLM (RecQ-like DNA helicase BLM)
K56R (p.Lys56Arg) in BLM (RecQ-like DNA helicase BLM) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K56R (p.Lys56Arg) variant details
- p.Lys56Arg
- TOPMed rs1222785570
- gnomAD rs1222785570
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.03
- CADD 9.28
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available