R23L (p.Arg23Leu) variant of SFTPC (Surfactant protein C)
R23L (p.Arg23Leu) in SFTPC (Surfactant protein C) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- 1000Genomes rs75902455
- ExAC rs75902455
- TOPMed rs75902455
- gnomAD rs75902455
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 23.50
- PolyPhen-2 0.63
- SIFT 0.09
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)