D123N (p.Asp123Asn) variant of ABCA3 (Q99758)
D123N (p.Asp123Asn) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary pulmonary alveolar proteinosis; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D123N (p.Asp123Asn) variant details
- p.Asp123Asn
- rs145087575
- ClinGen CA175149
- cosmic curated COSV57053
- ClinVar RCV000150116
- Conflicting interpretations
- Hereditary pulmonary alveolar proteinosis; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.17
- CADD 14.90
- PolyPhen-2 0.01
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pulmonary alveolar proteinosis; not specified; not pr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available