Q45K (p.Gln45Lys) variant of SFTPB (P07988)
Q45K (p.Gln45Lys) 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 0.34 / 1. The record also includes structural context.
Q45K (p.Gln45Lys) variant details
- p.Gln45Lys
- rs1427648151
- ClinGen CA347492784
- ClinVar RCV004078508
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.97
- PolyPhen-2 0.82
- SIFT 0.10
- MutPred 0.51
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available