E70G (p.Glu70Gly) variant of SFTPC (Surfactant protein C)
E70G (p.Glu70Gly) in SFTPC (Surfactant protein C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E70G (p.Glu70Gly) variant details
- p.Glu70Gly
- rs2538943124
- ClinVar RCV004590503
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available