T102A (p.Thr102Ala) variant of GBA1 (P04062)
T102A (p.Thr102Ala) in GBA1 (P04062) 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 0.28 / 1. The record also includes population frequency data and structural context.
T102A (p.Thr102Ala) variant details
- p.Thr102Ala
- TOPMed rs1317187144
- gnomAD rs1317187144
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.29
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available