W7C (p.Trp7Cys) variant of SERPINA1 (Alpha-1-antitrypsin)
W7C (p.Trp7Cys) in SERPINA1 (Alpha-1-antitrypsin) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
W7C (p.Trp7Cys) variant details
- p.Trp7Cys
- ESP rs370038282
- ExAC rs370038282
- gnomAD rs370038282
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.36
- CADD 18.00
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available