H9P (p.His9Pro) variant of SETD1B (Q9UPS6)
H9P (p.His9Pro) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
H9P (p.His9Pro) variant details
- p.His9Pro
- cosmic curated COSV57347
- ExAC rs763428639
- gnomAD rs763428639
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00023)
- Structural context available