S4N (p.Ser4Asn) variant of SETD1B (Q9UPS6)
S4N (p.Ser4Asn) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S4N (p.Ser4Asn) variant details
- p.Ser4Asn
- gnomAD rs1460732622
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 25.10
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available