I73V (p.Ile73Val) variant of SFTPC (Surfactant protein C)
I73V (p.Ile73Val) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I73V (p.Ile73Val) variant details
- p.Ile73Val
- gnomAD 8-22163095-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 22.00
- PolyPhen-2 0.22
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available