Y126D (p.Tyr126Asp) variant of SFTPB (P07988)
Y126D (p.Tyr126Asp) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmonary alveolar p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y126D (p.Tyr126Asp) variant details
- p.Tyr126Asp
- rs184305471
- ClinGen CA1744082
- cosmic curated COSV60892
- ClinVar RCV001139490
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmonary alveolar p
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.51
- CADD 24.80
- PolyPhen-2 0.50
- SIFT 0.02
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available