A19V (p.Ala19Val) variant of SFTPC (Surfactant protein C)
A19V (p.Ala19Val) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- TOPMed rs979006596
- gnomAD rs979006596
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 13.60
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available