S69Y (p.Ser69Tyr) variant of PKP1 (Plakophilin-1)
S69Y (p.Ser69Tyr) in PKP1 (Plakophilin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S69Y (p.Ser69Tyr) variant details
- p.Ser69Tyr
- rs2526690691
- ClinGen CA344170840
- ClinVar RCV004509271
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.21
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)