S1049P (p.Ser1049Pro) variant of ABCA3 (Q99758)
S1049P (p.Ser1049Pro) in ABCA3 (Q99758) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Congenital hyperammonemia, type I; not provided; Interstitial lung disease due t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S1049P (p.Ser1049Pro) variant details
- p.Ser1049Pro
- rs1460001890
- ClinGen CA394320116
- ClinVar RCV002025879
- ClinVar RCV004813201
- Likely pathogenic
- Congenital hyperammonemia, type I; not provided; Interstitial lung disease due t
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.73
- CADD 27.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Congenital hyperammonemia, type I; not provided; Interstitial lu)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Urea Cycle Disorders Overview. (PMID 20301396)