G19D (p.Gly19Asp) variant of SFTPB (P07988)
G19D (p.Gly19Asp) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
G19D (p.Gly19Asp) variant details
- p.Gly19Asp
- TOPMed rs1367413630
- gnomAD rs1367413630
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.32
- CADD 13.10
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available