W41G (p.Trp41Gly) variant of ABCA4 (P78363)
W41G (p.Trp41Gly) in ABCA4 (P78363) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
W41G (p.Trp41Gly) variant details
- p.Trp41Gly
- Ensembl rs1662654220
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.81
- MetaLR 0.91
- MetaSVM 0.96
- CADD 24.60
- PolyPhen-2 0.72
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available