H5P (p.His5Pro) variant of SETD1B (Q9UPS6)
H5P (p.His5Pro) 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.
H5P (p.His5Pro) variant details
- p.His5Pro
- gnomAD rs990629163
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.50
- PolyPhen-2 0.29
- SIFT 0.00
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.015)
- Structural context available