M135L (p.Met135Leu) variant of SERPINC1 (Antithrombin-III)
M135L (p.Met135Leu) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
M135L (p.Met135Leu) variant details
- p.Met135Leu
- gnomAD rs1657906212
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.46
- CADD 23.00
- PolyPhen-2 0.12
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available