Y126H (p.Tyr126His) variant of SFTPB (P07988)
Y126H (p.Tyr126His) 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 0.23 / 1. The record also includes population frequency data and structural context.
Y126H (p.Tyr126His) variant details
- p.Tyr126His
- 1000Genomes rs184305471
- ExAC rs184305471
- TOPMed rs184305471
- gnomAD rs184305471
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.10
- CADD 21.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available