G19R (p.Gly19Arg) variant of SFTPB (P07988)
G19R (p.Gly19Arg) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G19R (p.Gly19Arg) variant details
- p.Gly19Arg
- TOPMed rs1358662762
- gnomAD rs1358662762
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.25
- CADD 16.00
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available