H5Y (p.His5Tyr) variant of SFTPB (P07988)
H5Y (p.His5Tyr) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- rs1427243362
- ClinGen CA347493130
- ClinVar RCV002223434
- ClinVar RCV005742426
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.07
- CADD 6.86
- PolyPhen-2 0.00
- SIFT 0.16
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available