R11C (p.Arg11Cys) variant of GALT (P07902)
R11C (p.Arg11Cys) in GALT (P07902) 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 0.43 / 1. The record also includes population frequency data and structural context.
R11C (p.Arg11Cys) variant details
- p.Arg11Cys
- TOPMed rs1172080423
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.37
- AlphaMissense 0.08
- MetaLR 0.93
- MetaSVM 0.92
- CADD 22.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available