D118Y (p.Asp118Tyr) variant of SFTPB (P07988)
D118Y (p.Asp118Tyr) 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 0.25 / 1. The record also includes population frequency data and structural context.
D118Y (p.Asp118Tyr) variant details
- p.Asp118Tyr
- 1000Genomes rs45557339
- ESP rs45557339
- ExAC rs45557339
- TOPMed rs45557339
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.38
- CADD 2.10
- PolyPhen-2 0.70
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available