I67V (p.Ile67Val) variant of SETD1B (Q9UPS6)
I67V (p.Ile67Val) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I67V (p.Ile67Val) variant details
- p.Ile67Val
- gnomAD 12-121805142-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 20.00
- PolyPhen-2 0.03
- SIFT 0.41
- Population evidence available
- Structural context available
- Literature evidence available