P121A (p.Pro121Ala) variant of SFTPB (P07988)
P121A (p.Pro121Ala) in SFTPB (P07988) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.46 / 1. The record also includes population frequency data and structural context.
P121A (p.Pro121Ala) variant details
- p.Pro121Ala
- rs141905538
- ClinGen CA1744087
- ClinVar RCV001139492
- ClinVar RCV003163307
- Conflicting interpretations
- Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmonary alveolar p
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.39
- CADD 20.40
- PolyPhen-2 0.51
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00049)
- Structural context available