H59R (p.His59Arg) variant of SFTPC (Surfactant protein C)
H59R (p.His59Arg) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
H59R (p.His59Arg) variant details
- p.His59Arg
- rs201567623
- ClinGen CA4663918
- ClinVar RCV000271807
- ClinVar RCV000366166
- Conflicting interpretations
- Surfactant metabolism dysfunction, pulmonary, 2; Interstitial lung disease 2; He
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Surfactant metabolism dysfunction, pulmonary, 2; Interstitial lu)
- EBI: Benign
- UniProt: Benign
- Most common in the Middle Eastern population (allele frequency 0.00087)
- Structural context available
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)