M138T (p.Met138Thr) variant of SFTPB (P07988)
M138T (p.Met138Thr) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Surfactant metabolism dysfunction, pulmonary, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
M138T (p.Met138Thr) variant details
- p.Met138Thr
- rs777381019
- ClinGen CA1744039
- ClinVar RCV001137242
- ExAC rs777381019
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.0829
- REVEL 0.09
- CADD 1.63
- PolyPhen-2 0.00
- SIFT 0.43
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available