R10C (p.Arg10Cys) variant of ASXL3 (Q9C0F0)
R10C (p.Arg10Cys) in ASXL3 (Q9C0F0) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- ExAC rs772436861
- TOPMed rs772436861
- gnomAD rs772436861
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.99
- MetaLR 0.04
- MetaSVM -1.01
- CADD 24.20
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available