V59I (p.Val59Ile) variant of SFTPB (P07988)
V59I (p.Val59Ile) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V59I (p.Val59Ile) variant details
- p.Val59Ile
- gnomAD rs1454907306
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.33
- CADD 24.20
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available