H11P (p.His11Pro) variant of SETD1B (Q9UPS6)
H11P (p.His11Pro) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H11P (p.His11Pro) variant details
- p.His11Pro
- cosmic curated COSV10876
- ExAC rs771290613
- gnomAD rs771290613
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 23.50
- PolyPhen-2 0.38
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available