I124V (p.Ile124Val) variant of SFTPB (P07988)
I124V (p.Ile124Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
I124V (p.Ile124Val) variant details
- p.Ile124Val
- rs2466699768
- ClinGen CA347491002
- ClinVar RCV002321448
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.17
- CADD 1.52
- PolyPhen-2 0.06
- SIFT 0.43
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available