P58L (p.Pro58Leu) variant of SERPINC1 (Antithrombin-III)
P58L (p.Pro58Leu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P58L (p.Pro58Leu) variant details
- p.Pro58Leu
- 1000Genomes rs550247582
- ExAC rs550247582
- TOPMed rs550247582
- gnomAD rs550247582
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.53
- CADD 25.70
- PolyPhen-2 0.56
- SIFT 0.03
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available