V17A (p.Val17Ala) variant of SERPINE1 (P05121)
V17A (p.Val17Ala) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- gnomAD rs1268101578
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.39
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available