D98N (p.Asp98Asn) variant of SERPINA1 (Alpha-1-antitrypsin)
D98N (p.Asp98Asn) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D98N (p.Asp98Asn) variant details
- p.Asp98Asn
- rs1035193069
- NCI-TCGA Cosmic COSV6334
- cosmic curated COSV63345
- TOPMed rs1035193069
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.10
- CADD 1.19
- PolyPhen-2 0.00
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available