Q49L (p.Gln49Leu) variant of SETD5 (Q9C0A6)
Q49L (p.Gln49Leu) 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.
Q49L (p.Gln49Leu) variant details
- p.Gln49Leu
- gnomAD 3-9429959-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 21.20
- Population evidence available
- Structural context available
- Literature evidence available