G19C (p.Gly19Cys) variant of SFTPB (P07988)
G19C (p.Gly19Cys) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G19C (p.Gly19Cys) variant details
- p.Gly19Cys
- TOPMed rs1358662762
- gnomAD rs1358662762
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.20
- CADD 19.20
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available