S21P (p.Ser21Pro) variant of PANK2 (Q9BZ23)
S21P (p.Ser21Pro) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- rs764119764
- ClinGen CA9750470
- ClinVar RCV000992501
- ClinVar RCV006367518
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.65
- MetaSVM -0.18
- CADD 2.59
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)