A19P (p.Ala19Pro) variant of GALT (P07902)
A19P (p.Ala19Pro) in GALT (P07902) is a missense change. Clinical records from ClinVar, EBI, 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 0.53 / 1. The record also includes population frequency data and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- rs545621674
- ClinGen CA5035996
- ClinVar RCV003129480
- 1000Genomes rs545621674
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.52
- AlphaMissense 0.09
- MetaLR 0.92
- MetaSVM 0.60
- CADD 7.61
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available