Q49H (p.Gln49His) variant of SETD5 (Q9C0A6)
Q49H (p.Gln49His) 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.
Q49H (p.Gln49His) variant details
- p.Gln49His
- rs2039777253
- gnomAD 3-9430008-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- CADD 20.70
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available