V31A (p.Val31Ala) variant of SFTPC (Surfactant protein C)
V31A (p.Val31Ala) in SFTPC (Surfactant protein C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V31A (p.Val31Ala) variant details
- p.Val31Ala
- TOPMed rs1443130935
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 10.90
- PolyPhen-2 0.14
- SIFT 0.65
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available