L44P (p.Leu44Pro) variant of TMEM43 (Transmembrane protein 43)
L44P (p.Leu44Pro) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L44P (p.Leu44Pro) variant details
- p.Leu44Pro
- rs1695065337
- ClinGen CA351534401
- ClinVar RCV003306490
- gnomAD rs1695065337
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.36
- SIFT 0.07
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available