I136N (p.Ile136Asn) variant of SFTPB (P07988)
I136N (p.Ile136Asn) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
I136N (p.Ile136Asn) variant details
- p.Ile136Asn
- rs1210349465
- ClinGen CA347490758
- ClinVar RCV002328269
- TOPMed rs1210349465
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.61
- CADD 24.40
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available