L188Q (p.Leu188Gln) variant of SFTPC (Surfactant protein C)
L188Q (p.Leu188Gln) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Surfactant metabolism dysfunction, pulmonary, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature.
L188Q (p.Leu188Gln) variant details
- p.Leu188Gln
- rs121917835
- ClinGen CA210540
- ClinVar RCV000014097
- UniProt VAR 026756
- Pathogenic
- Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- AlphaMissense 0.70
- MetaLR 0.68
- MetaSVM 0.60
- SIFT 0.00
- MutPred 0.89
- ClinVar: Pathogenic (Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Pathogenic (in SMDP2)
- UniProt: Pathogenic (in SMDP2)
- Cited in: Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular… (PMID 11991887)
- Cited in: Familial fibrocystic pulmonary dysplasia and its relation to Hamman-Rich syndrome. (PMID 13817571)