N23Y (p.Asn23Tyr) variant of ASXL1 (Polycomb group protein ASXL1)
N23Y (p.Asn23Tyr) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N23Y (p.Asn23Tyr) variant details
- p.Asn23Tyr
- Ensembl rs2122810052
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.33
- MetaLR 0.09
- MetaSVM -1.08
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available