A59S (p.Ala59Ser) variant of SETD5 (Q9C0A6)
A59S (p.Ala59Ser) 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.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- gnomAD 3-9429909-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available