P14S (p.Pro14Ser) variant of SETD1B (Q9UPS6)
P14S (p.Pro14Ser) in SETD1B (Q9UPS6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- gnomAD rs1326516333
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.25
- ESM-1b 0.18
- AlphaMissense 0.13
- CADD 22.90
- PolyPhen-2 0.40
- SIFT 0.01
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available