A83T (p.Ala83Thr) variant of SFTPB (P07988)
A83T (p.Ala83Thr) in SFTPB (P07988) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A83T (p.Ala83Thr) variant details
- p.Ala83Thr
- 1000Genomes rs573709240
- ExAC rs573709240
- gnomAD rs573709240
- Likely benign
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.23
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.84
- ClinVar: Likely benign (Hereditary pulmonary alveolar proteinosis)
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available