G52R (p.Gly52Arg) variant of SETD5 (Q9C0A6)
G52R (p.Gly52Arg) 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.
G52R (p.Gly52Arg) variant details
- p.Gly52Arg
- gnomAD 3-9429906-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 21.10
- Population evidence available
- Structural context available
- Literature evidence available