Y48C (p.Tyr48Cys) variant of SETD1B (Q9UPS6)
Y48C (p.Tyr48Cys) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
Y48C (p.Tyr48Cys) variant details
- p.Tyr48Cys
- cosmic curated COSV10875
- Missense
- Variant Prioritization Score for Impact Estimate 0.987
- ESM-1b 1.00
- AlphaMissense 0.97
- Structural context available