A53V (p.Ala53Val) variant of SFTPC (Surfactant protein C)
A53V (p.Ala53Val) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- gnomAD 8-22162689-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available