L7G (p.Leu7Gly) variant of SETD5 (Q9C0A6)
L7G (p.Leu7Gly) in SETD5 (Q9C0A6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L7G (p.Leu7Gly) variant details
- p.Leu7Gly
- rs1559388209
- gnomAD 3-9428954-CCT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 25.50
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available