V74I (p.Val74Ile) variant of SETD1B (Q9UPS6)
V74I (p.Val74Ile) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V74I (p.Val74Ile) variant details
- p.Val74Ile
- ESP rs376274057
- TOPMed rs376274057
- gnomAD rs376274057
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 21.60
- PolyPhen-2 0.29
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available