Q49R (p.Gln49Arg) variant of SETD5 (Q9C0A6)
Q49R (p.Gln49Arg) in SETD5 (Q9C0A6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- rs1268792153
- gnomAD 3-9429920-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available