G46R (p.Gly46Arg) variant of SETD5 (Q9C0A6)
G46R (p.Gly46Arg) 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.
G46R (p.Gly46Arg) variant details
- p.Gly46Arg
- rs2039768771
- gnomAD 3-9429876-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 21.10
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Literature evidence available