A13S (p.Ala13Ser) variant of ASXL3 (Q9C0F0)
A13S (p.Ala13Ser) in ASXL3 (Q9C0F0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A13S (p.Ala13Ser) variant details
- p.Ala13Ser
- Ensembl rs2064966446
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.66
- MetaLR 0.08
- MetaSVM -1.03
- CADD 23.30
- Most common in the REMAINING population (allele frequency 0.00049)
- Structural context available