V68I (p.Val68Ile) variant of SFTPC (Surfactant protein C)
V68I (p.Val68Ile) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
V68I (p.Val68Ile) variant details
- p.Val68Ile
- gnomAD 8-22163080-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available