S21L (p.Ser21Leu) variant of SETD1B (Q9UPS6)
S21L (p.Ser21Leu) in SETD1B (Q9UPS6) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- Ensembl rs12814488
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- ESM-1b 0.00
- AlphaMissense 0.52
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available