V129M (p.Val129Met) variant of ABCA3 (Q99758)
V129M (p.Val129Met) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V129M (p.Val129Met) variant details
- p.Val129Met
- rs137924161
- ClinGen CA7841683
- cosmic curated COSV57048
- ClinVar RCV000732369
- Uncertain significance
- Hereditary pulmonary alveolar proteinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.63
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.08
- ClinVar: Uncertain significance (Hereditary pulmonary alveolar proteinosis; not specified; not pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available