V102I (p.Val102Ile) variant of SFTPB (P07988)
V102I (p.Val102Ile) 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 0.16 / 1. The record also includes population frequency data and structural context.
V102I (p.Val102Ile) variant details
- p.Val102Ile
- rs767270671
- ClinGen CA1744095
- cosmic curated COSV60894
- ClinVar RCV004305672
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.23
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available