H12Y (p.His12Tyr) variant of PANK2 (Q9BZ23)
H12Y (p.His12Tyr) in PANK2 (Q9BZ23) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; Pigmentary pallidal degeneration. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- rs374286033
- ClinGen CA9750457
- ClinVar RCV001203887
- ClinVar RCV003994233
- Conflicting interpretations
- Inborn genetic diseases; not specified; Pigmentary pallidal degeneration
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.71
- MetaSVM 0.09
- CADD 14.95
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; Pigmentary pallidal dege)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- 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)