L17F (p.Leu17Phe) variant of SFTPB (P07988)
L17F (p.Leu17Phe) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- TOPMed rs1677748918
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.11
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.39
- Population evidence available
- Structural context available