D118E (p.Asp118Glu) variant of SFTPB (P07988)
D118E (p.Asp118Glu) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D118E (p.Asp118Glu) variant details
- p.Asp118Glu
- Ensembl rs2104415166
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.06
- CADD 5.57
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available