D26A (p.Asp26Ala) variant of SERPINA1 (Alpha-1-antitrypsin)
D26A (p.Asp26Ala) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign; other in the context of Alpha-1-antitrypsin deficiency; PI V(MUNICH). The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
D26A (p.Asp26Ala) variant details
- p.Asp26Ala
- rs199422212
- ClinGen CA127719
- ClinVar RCV000019593
- ClinVar RCV000512626
- Benign; other
- Alpha-1-antitrypsin deficiency; PI V(MUNICH)
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.09
- MetaLR 0.48
- MetaSVM -0.47
- PolyPhen-2 0.17
- SIFT 0.04
- MutPred 0.43
- ClinVar: Benign; other (Alpha-1-antitrypsin deficiency; PI V(MUNICH))
- EBI: Benign (in V-Munich)
- UniProt: Benign (in V-Munich)
- Structural context available
- Cited in: Molecular analysis of the heterogeneity among the P-family of alpha-1-antitrypsin alleles. (PMID 2240842)
- Cited in: Characterization of the normal alpha 1-antitrypsin allele Vmunich: a variant associated with a unique protein… (PMID 2316526)