P14L (p.Pro14Leu) variant of SFTPC (Surfactant protein C)
P14L (p.Pro14Leu) 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 Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- rs2131811698
- ClinGen CA370536608
- ClinVar RCV004455849
- Ensembl rs2131811698
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available