V68G (p.Val68Gly) variant of SETD1B (Q9UPS6)
V68G (p.Val68Gly) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
V68G (p.Val68Gly) variant details
- p.Val68Gly
- gnomAD rs1307525979
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.73
- ESM-1b 0.00
- AlphaMissense 0.99
- CADD 27.60
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available