G31A (p.Gly31Ala) variant of PANK2 (Q9BZ23)
G31A (p.Gly31Ala) in PANK2 (Q9BZ23) 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 0.18 / 1. The record also includes population frequency data and published literature.
G31A (p.Gly31Ala) variant details
- p.Gly31Ala
- rs886044063
- ClinGen CA10606301
- ClinVar RCV000345784
- ClinVar RCV001859692
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.60
- MetaSVM -0.11
- CADD 2.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Cited in: Pantothenate Kinase-Associated Neurodegeneration. (PMID 20301663)
- Cited in: Neurodegeneration with Brain Iron Accumulation Disorders Overview. (PMID 23447832)