I73N (p.Ile73Asn) variant of SFTPC (Surfactant protein C)
I73N (p.Ile73Asn) in SFTPC (Surfactant protein C) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SMDP2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
I73N (p.Ile73Asn) variant details
- p.Ile73Asn
- ExAC rs121917834
- TOPMed rs121917834
- gnomAD rs121917834
- Pathogenic
- in SMDP2
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- CADD 26.10
- PolyPhen-2 0.87
- SIFT 0.00
- EBI: Pathogenic (in SMDP2)
- UniProt: Pathogenic (in SMDP2)
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available