T16M (p.Thr16Met) variant of SFTPB (P07988)
T16M (p.Thr16Met) in SFTPB (P07988) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Surfactant metabolism dysfunction, pulmonary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T16M (p.Thr16Met) variant details
- p.Thr16Met
- cosmic curated COSV10590
- TOPMed rs1490852263
- gnomAD rs1490852263
- Uncertain significance
- not provided; Surfactant metabolism dysfunction, pulmonary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0758
- REVEL 0.08
- CADD 2.02
- PolyPhen-2 0.01
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Surfactant metabolism dysfunction, pulmonary, 1)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available