P64A (p.Pro64Ala) variant of SETD1B (Q9UPS6)
P64A (p.Pro64Ala) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
P64A (p.Pro64Ala) variant details
- p.Pro64Ala
- gnomAD 12-121805133-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.60
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available