C49Y (p.Cys49Tyr) variant of SFTPB (P07988)
C49Y (p.Cys49Tyr) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
C49Y (p.Cys49Tyr) variant details
- p.Cys49Tyr
- rs1218322078
- ClinGen CA347492727
- ClinVar RCV002254437
- gnomAD rs1218322078
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.79
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available