M59I (p.Met59Ile) variant of SETD1B (Q9UPS6)
M59I (p.Met59Ile) 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.
M59I (p.Met59Ile) variant details
- p.Met59Ile
- gnomAD 12-121805120-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.51
- CADD 22.30
- PolyPhen-2 0.10
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available