V76I (p.Val76Ile) variant of SFTPB (P07988)
V76I (p.Val76Ile) 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.
V76I (p.Val76Ile) variant details
- p.Val76Ile
- rs753519344
- ClinGen CA1744132
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10066
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.14
- CADD 5.47
- PolyPhen-2 0.07
- SIFT 0.36
- 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 0.00033)
- Structural context available