L56M (p.Leu56Met) variant of SETD5 (Q9C0A6)
L56M (p.Leu56Met) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L56M (p.Leu56Met) variant details
- p.Leu56Met
- gnomAD 3-9429976-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 19.70
- Population evidence available
- Structural context available
- Literature evidence available