I46V (p.Ile46Val) variant of SFTPC (Surfactant protein C)
I46V (p.Ile46Val) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- Ensembl rs2131815144
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- CADD 5.30
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available