P6A (p.Pro6Ala) variant of SETD1B (Q9UPS6)
P6A (p.Pro6Ala) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- TOPMed rs1245178468
- gnomAD rs1245178468
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.40
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available