G135S (p.Gly135Ser) variant of SFTPB (P07988)
G135S (p.Gly135Ser) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmon. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G135S (p.Gly135Ser) variant details
- p.Gly135Ser
- rs35373464
- ClinGen CA1744041
- cosmic curated COSV10522
- ClinVar RCV000728151
- Conflicting interpretations
- not provided; Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmon
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.36
- CADD 9.13
- PolyPhen-2 0.05
- SIFT 0.25
- ClinVar: Conflicting classifications of pathogenicity (not provided; Surfactant metabolism dysfunction, pulmonary, 1; H)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.14)
- Structural context available