M46L (p.Met46Leu) variant of PKP1 (Plakophilin-1)
M46L (p.Met46Leu) 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; Epidermolysis bullosa simplex due to plakophilin defici. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
M46L (p.Met46Leu) variant details
- p.Met46Leu
- rs369806569
- ClinGen CA1323975
- ClinVar RCV000266980
- ClinVar RCV004021410
- Uncertain significance
- Inborn genetic diseases; Epidermolysis bullosa simplex due to plakophilin defici
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.05
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Uncertain significance (Inborn genetic diseases; Epidermolysis bullosa simplex due to pl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)