R50K (p.Arg50Lys) variant of SETD5 (Q9C0A6)
R50K (p.Arg50Lys) 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.
R50K (p.Arg50Lys) variant details
- p.Arg50Lys
- rs2039770453
- gnomAD 3-9429899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 20.70
- Most common in the REMAINING population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available