S1269R (p.Ser1269Arg) variant of ASXL3 (Q9C0F0)
S1269R (p.Ser1269Arg) in ASXL3 (Q9C0F0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes published literature and structural context.
S1269R (p.Ser1269Arg) variant details
- p.Ser1269Arg
- rs2145425648
- ClinGen CA402186144
- ClinVar RCV002248973
- Ensembl rs2145425648
- Likely pathogenic
- Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.10
- MetaSVM -1.07
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Severe feeding difficulties-failure to thrive-microcephaly due t)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: ASXL3-Related Disorder. (PMID 33151654)