R23Q (p.Arg23Gln) variant of SFTPC (Surfactant protein C)
R23Q (p.Arg23Gln) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Interstitial lung disease 2; not provided; Hereditary pulmonary alveolar protein. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and published literature.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs75902455
- ClinGen CA4663893
- cosmic curated COSV59346
- ClinVar RCV001160162
- Benign/Likely benign
- Interstitial lung disease 2; not provided; Hereditary pulmonary alveolar protein
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 21.80
- PolyPhen-2 0.03
- SIFT 0.25
- ClinVar: Benign/Likely benign (Interstitial lung disease 2; not provided; Hereditary pulmonary)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:OROQEN population (allele frequency 0.062)
- Cited in: Pulmonary Fibrosis Predisposition Overview. (PMID 20301408)