A116D (p.Ala116Asp) variant of SFTPC (Surfactant protein C)
A116D (p.Ala116Asp) 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 0.46 / 1. The record also includes published literature.
A116D (p.Ala116Asp) variant details
- p.Ala116Asp
- rs121918559
- ClinGen CA210542
- ClinVar RCV000014099
- UniProt VAR 026754
- Pathogenic
- Surfactant metabolism dysfunction, pulmonary, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- AlphaMissense 0.30
- MetaLR 0.48
- MetaSVM 0.06
- PolyPhen-2 0.03
- SIFT 0.03
- MutPred 0.70
- ClinVar: Pathogenic (Surfactant metabolism dysfunction, pulmonary, 2)
- EBI: Pathogenic (in SMDP2)
- UniProt: Pathogenic (in SMDP2)
- Cited in: Hydroxychloroquine and surfactant protein C deficiency. (PMID 15647591)
- Cited in: Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular… (PMID 11991887)