T131I (p.Thr131Ile) variant of SFTPB (P07988)
T131I (p.Thr131Ile) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Hereditary pulmonary alveolar proteinosis; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T131I (p.Thr131Ile) variant details
- p.Thr131Ile
- rs1130866
- ClinGen CA177942
- cosmic curated COSV60892
- ClinVar RCV000151850
- Benign
- Hereditary pulmonary alveolar proteinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.15
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Hereditary pulmonary alveolar proteinosis; not specified; not pr)
- EBI: Benign (in dbSNP:rs1130866)
- UniProt: Benign (in dbSNP:rs1130866)
- Most common in the HGDP:BANTUKENYA population (allele frequency 1)
- Structural context available
- Cited in: Polymorphisms of human SP-A, SP-B, and SP-D genes: association of SP-B Thr131Ile with ARDS. (PMID 11076040)