A31V (p.Ala31Val) variant of SFTPB (P07988)
A31V (p.Ala31Val) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- ExAC rs765446107
- TOPMed rs765446107
- gnomAD rs765446107
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.03
- CADD 13.90
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available