A39V (p.Ala39Val) variant of SETD1B (Q9UPS6)
A39V (p.Ala39Val) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD 12-121804853-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.76
- CADD 24.70
- PolyPhen-2 0.92
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available