L45P (p.Leu45Pro) variant of SFTPC (Surfactant protein C)
L45P (p.Leu45Pro) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Surfactant metabolism dysfunction, pulmonary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
L45P (p.Leu45Pro) variant details
- p.Leu45Pro
- rs948413532
- ClinGen CA173482989
- ClinVar RCV003320434
- ClinVar RCV005402027
- Uncertain significance
- not provided; Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available