V44F (p.Val44Phe) variant of SFTPC (Surfactant protein C)
V44F (p.Val44Phe) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
V44F (p.Val44Phe) variant details
- p.Val44Phe
- gnomAD 8-22162661-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available