A47T (p.Ala47Thr) variant of SERPINE1 (P05121)
A47T (p.Ala47Thr) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- ExAC rs769368888
- gnomAD rs769368888
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available