P7T (p.Pro7Thr) variant of SETD1B (Q9UPS6)
P7T (p.Pro7Thr) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P7T (p.Pro7Thr) variant details
- p.Pro7Thr
- gnomAD 12-121804756-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 19.70
- PolyPhen-2 0.02
- SIFT 0.49
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available