R3C (p.Arg3Cys) variant of GALT (P07902)
R3C (p.Arg3Cys) in GALT (P07902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- TOPMed rs1821109915
- gnomAD rs1821109915
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.46
- CADD 19.30
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available