A54T (p.Ala54Thr) variant of ABCA3 (Q99758)
A54T (p.Ala54Thr) 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 provided; Interstitial lung disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs147278907
- ClinGen CA7841771
- cosmic curated COSV10738
- ClinVar RCV000288211
- Conflicting interpretations
- Hereditary pulmonary alveolar proteinosis; not provided; Interstitial lung disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.11
- CADD 23.50
- PolyPhen-2 0.70
- SIFT 0.10
- ClinVar: Conflicting classifications of pathogenicity (Hereditary pulmonary alveolar proteinosis; not provided; Interst)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAYA population (allele frequency 0.026)
- Structural context available