E44G (p.Glu44Gly) variant of SFTPB (P07988)
E44G (p.Glu44Gly) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E44G (p.Glu44Gly) variant details
- p.Glu44Gly
- gnomAD rs1167954505
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.36
- CADD 27.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available