G38W (p.Gly38Trp) variant of CDKN2A (Tumor suppressor ARF)
G38W (p.Gly38Trp) in CDKN2A (Tumor suppressor ARF) 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 0.20 / 1. The record also includes population frequency data.
G38W (p.Gly38Trp) variant details
- p.Gly38Trp
- TOPMed rs1346248530
- gnomAD rs1346248530
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- AlphaMissense 0.22
- MetaLR 0.19
- MetaSVM -1.00
- CADD 6.82
- SIFT 0.30
- EVE 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)