Q49K (p.Gln49Lys) variant of SETD5 (Q9C0A6)
Q49K (p.Gln49Lys) 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.
Q49K (p.Gln49Lys) variant details
- p.Gln49Lys
- rs1443180782
- gnomAD 3-9429903-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 20.40
- Population evidence available
- Structural context available
- Literature evidence available