H32Y (p.His32Tyr) variant of SFTPC (Surfactant protein C)
H32Y (p.His32Tyr) 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 0.28 / 1. The record also includes population frequency data and structural context.
H32Y (p.His32Tyr) variant details
- p.His32Tyr
- rs192391655
- ClinGen CA4663900
- ClinVar RCV002374126
- 1000Genomes rs192391655
- Benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 14.70
- PolyPhen-2 0.47
- SIFT 0.01
- ClinVar: Benign (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available