P138A (p.Pro138Ala) variant of ABCA3 (Q99758)
P138A (p.Pro138Ala) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary pulmonary alveolar proteinosis; not provided. 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.
P138A (p.Pro138Ala) variant details
- p.Pro138Ala
- rs369686350
- ClinGen CA7841676
- ClinVar RCV002333049
- ClinVar RCV006470672
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.22
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available