V93I (p.Val93Ile) variant of ABCA3 (Q99758)
V93I (p.Val93Ile) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Hereditary pulmonary alveolar proteinosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
V93I (p.Val93Ile) variant details
- p.Val93Ile
- rs199840288
- ClinGen CA7841748
- ClinVar RCV002963410
- 1000Genomes rs199840288
- Benign/Likely benign
- not provided; Hereditary pulmonary alveolar proteinosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.71
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Benign/Likely benign (not provided; Hereditary pulmonary alveolar proteinosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YI population (allele frequency 0.1)
- Structural context available