L19V (p.Leu19Val) variant of ASXL1 (Polycomb group protein ASXL1)
L19V (p.Leu19Val) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD rs2048057022
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.03
- CADD 23.00
- PolyPhen-2 0.14
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available