T91M (p.Thr91Met) variant of SFTPB (P07988)
T91M (p.Thr91Met) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pulmonary alveolar proteinosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T91M (p.Thr91Met) variant details
- p.Thr91Met
- rs45488101
- ClinGen CA1744104
- cosmic curated COSV60893
- ClinVar RCV002325780
- Conflicting interpretations
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.39
- CADD 0.32
- PolyPhen-2 0.18
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pulmonary alveolar proteinosis; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:LWK population (allele frequency 0.012)
- Structural context available