H54N (p.His54Asn) variant of SETD1B (Q9UPS6)
H54N (p.His54Asn) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H54N (p.His54Asn) variant details
- p.His54Asn
- gnomAD 12-121804897-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.18
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available