P51L (p.Pro51Leu) variant of SERPINC1 (Antithrombin-III)
P51L (p.Pro51Leu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P51L (p.Pro51Leu) variant details
- p.Pro51Leu
- ExAC rs745698642
- gnomAD rs745698642
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.77
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available