I87V (p.Ile87Val) variant of SFTPB (P07988)
I87V (p.Ile87Val) in SFTPB (P07988) 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.
I87V (p.Ile87Val) variant details
- p.Ile87Val
- gnomAD rs1200961574
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.24
- CADD 15.10
- PolyPhen-2 0.08
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available