W21G (p.Trp21Gly) variant of ATL1 (Atlastin-1)
W21G (p.Trp21Gly) in ATL1 (Atlastin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
W21G (p.Trp21Gly) variant details
- p.Trp21Gly
- Ensembl rs1566722905
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.36
- AlphaMissense 0.76
- MetaLR 0.44
- MetaSVM -0.33
- CADD 26.00
- PolyPhen-2 0.99
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available