V48M (p.Val48Met) variant of SFTPC (Surfactant protein C)
V48M (p.Val48Met) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Surfactant metabolism dysfunction, pulmonary, 2; Interstitial lung disease 2; He. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- rs566914013
- ClinGen CA4663912
- ClinVar RCV000306866
- ClinVar RCV000407976
- Conflicting interpretations
- Surfactant metabolism dysfunction, pulmonary, 2; Interstitial lung disease 2; He
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Surfactant metabolism dysfunction, pulmonary, 2; Interstitial lu)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0049)
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)