H54L (p.His54Leu) variant of SETD1B (Q9UPS6)
H54L (p.His54Leu) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
H54L (p.His54Leu) variant details
- p.His54Leu
- gnomAD 12-121804898-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.53
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available