H10P (p.His10Pro) variant of SETD1B (Q9UPS6)
H10P (p.His10Pro) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H10P (p.His10Pro) variant details
- p.His10Pro
- cosmic curated COSV10876
- gnomAD rs916407832
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 25.10
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 8.5e-05)
- Structural context available