D280V (p.Asp280Val) variant of SERPINA1 (Alpha-1-antitrypsin)
D280V (p.Asp280Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Mitochondrial complex I deficiency, nuclear type 21; not provided; Alpha-1-antit. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D280V (p.Asp280Val) variant details
- p.Asp280Val
- rs121912714
- ClinGen CA127689
- ClinVar RCV000019576
- ClinVar RCV000019577
- Pathogenic; other
- Mitochondrial complex I deficiency, nuclear type 21; not provided; Alpha-1-antit
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.67
- CADD 23.90
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Pathogenic; other (Mitochondrial complex I deficiency, nuclear type 21; not provide)
- EBI: Pathogenic (in A1ATD)
- UniProt: Pathogenic (in A1ATD)
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available
- Cited in: Identification and molecular characterization of the new alpha-1-antitrypsin deficient allele PI Y barcelona… (PMID 10651487)
- Cited in: Molecular characterization of the P and I variants of alpha 1-antitrypsin. (PMID 1504305)