P7A (p.Pro7Ala) variant of SETD1B (Q9UPS6)
P7A (p.Pro7Ala) 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.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- gnomAD rs1373777370
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available