R50Q (p.Arg50Gln) variant of SETD5 (Q9C0A6)
R50Q (p.Arg50Gln) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R50Q (p.Arg50Gln) variant details
- p.Arg50Gln
- rs1226014283
- gnomAD 3-9429859-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 21.70
- Most common in the Latino/Admixed American population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available