V20F (p.Val20Phe) variant of ASXL1 (Polycomb group protein ASXL1)
V20F (p.Val20Phe) in ASXL1 (Polycomb group protein ASXL1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
V20F (p.Val20Phe) variant details
- p.Val20Phe
- gnomAD 20-32359753-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- MetaLR 0.04
- MetaSVM -0.99
- CADD 8.57
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available