D104V (p.Asp104Val) variant of SERPINC1 (Antithrombin-III)
D104V (p.Asp104Val) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
D104V (p.Asp104Val) variant details
- p.Asp104Val
- ExAC rs200118419
- gnomAD rs200118419
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.27
- CADD 20.40
- PolyPhen-2 0.12
- SIFT 0.18
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available