D26V (p.Asp26Val) variant of SERPINA1 (Alpha-1-antitrypsin)
D26V (p.Asp26Val) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in V-Munich. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D26V (p.Asp26Val) variant details
- p.Asp26Val
- TOPMed rs199422212
- gnomAD rs199422212
- Benign
- in V-Munich
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.40
- AlphaMissense 0.09
- MetaLR 0.48
- MetaSVM -0.47
- CADD 13.00
- PolyPhen-2 0.17
- EBI: Benign (in V-Munich)
- UniProt: Benign (in V-Munich)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available