M92T (p.Met92Thr) variant of SFTPB (P07988)
M92T (p.Met92Thr) in SFTPB (P07988) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M92T (p.Met92Thr) variant details
- p.Met92Thr
- ExAC rs757279120
- gnomAD rs757279120
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.50
- CADD 5.97
- PolyPhen-2 0.01
- SIFT 0.05
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available