I46N (p.Ile46Asn) variant of SFTPC (Surfactant protein C)
I46N (p.Ile46Asn) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
I46N (p.Ile46Asn) variant details
- p.Ile46Asn
- gnomAD 8-22162668-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- CADD 22.50
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available