T27I (p.Thr27Ile) variant of SFTPB (P07988)
T27I (p.Thr27Ile) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T27I (p.Thr27Ile) variant details
- p.Thr27Ile
- TOPMed rs1270553539
- gnomAD rs1270553539
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- CADD 14.80
- PolyPhen-2 0.15
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available