V5A (p.Val5Ala) variant of SERPINC1 (Antithrombin-III)
V5A (p.Val5Ala) in SERPINC1 (Antithrombin-III) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V5A (p.Val5Ala) variant details
- p.Val5Ala
- ExAC rs748072934
- gnomAD rs748072934
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.17
- CADD 0.18
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available