R21Q (p.Arg21Gln) variant of SFTPC (Surfactant protein C)
R21Q (p.Arg21Gln) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R21Q (p.Arg21Gln) variant details
- p.Arg21Gln
- rs371321234
- ClinGen CA4663889
- ClinVar RCV002368782
- ESP rs371321234
- Benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Benign (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0017)
- Structural context available