V8A (p.Val8Ala) variant of SFTPC (Surfactant protein C)
V8A (p.Val8Ala) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
V8A (p.Val8Ala) variant details
- p.Val8Ala
- gnomAD 8-22161851-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available