S25L (p.Ser25Leu) variant of ASXL1 (Polycomb group protein ASXL1)
S25L (p.Ser25Leu) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S25L (p.Ser25Leu) variant details
- p.Ser25Leu
- cosmic curated COSV60107
- gnomAD rs1219695894
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -1.04
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available