P6T (p.Pro6Thr) variant of SETD1B (Q9UPS6)
P6T (p.Pro6Thr) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- gnomAD 12-121804753-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.10
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available