S31N (p.Ser31Asn) variant of SETD1B (Q9UPS6)
S31N (p.Ser31Asn) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S31N (p.Ser31Asn) variant details
- p.Ser31Asn
- gnomAD 12-121804829-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.86
- CADD 23.50
- PolyPhen-2 0.99
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available