P121S (p.Pro121Ser) variant of SFTPB (P07988)
P121S (p.Pro121Ser) in SFTPB (P07988) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P121S (p.Pro121Ser) variant details
- p.Pro121Ser
- ExAC rs141905538
- TOPMed rs141905538
- gnomAD rs141905538
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.31
- CADD 16.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available