P67A (p.Pro67Ala) variant of GBA1 (P04062)
P67A (p.Pro67Ala) in GBA1 (P04062) 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 0.49 / 1. The record also includes population frequency data and structural context.
P67A (p.Pro67Ala) variant details
- p.Pro67Ala
- rs1671993480
- ClinGen CA342727714
- ClinVar RCV001310869
- Ensembl rs1671993480
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.47
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available