I67T (p.Ile67Thr) variant of SETD1B (Q9UPS6)
I67T (p.Ile67Thr) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I67T (p.Ile67Thr) variant details
- p.Ile67Thr
- gnomAD 12-121805143-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 20.80
- PolyPhen-2 0.07
- SIFT 0.65
- Population evidence available
- Structural context available
- Literature evidence available