R17S (p.Arg17Ser) variant of ASXL3 (Q9C0F0)
R17S (p.Arg17Ser) in ASXL3 (Q9C0F0) 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.
R17S (p.Arg17Ser) variant details
- p.Arg17Ser
- ExAC rs766432387
- gnomAD rs766432387
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.17
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.03
- MetaSVM -1.07
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available