V102L (p.Val102Leu) variant of SFTPB (P07988)
V102L (p.Val102Leu) 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 0.14 / 1. The record also includes population frequency data and structural context.
V102L (p.Val102Leu) variant details
- p.Val102Leu
- rs767270671
- ClinGen CA347491303
- ClinVar RCV001139493
- ClinVar RCV004659360
- Uncertain significance
- Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulmonary alveolar p
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.19
- CADD 0.00
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (Surfactant metabolism dysfunction, pulmonary, 1; Hereditary pulm)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available