R3S (p.Arg3Ser) variant of PANK2 (Q9BZ23)
R3S (p.Arg3Ser) in PANK2 (Q9BZ23) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Pigmentary pallidal degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R3S (p.Arg3Ser) variant details
- p.Arg3Ser
- rs1211425299
- ClinGen CA408138126
- ClinVar RCV000687659
- ClinVar RCV002544786
- Uncertain significance
- Inborn genetic diseases; not provided; Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.70
- MetaSVM -0.05
- CADD 6.53
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Pigmentary pallidal degen)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)