A49V (p.Ala49Val) variant of SERPINE1 (P05121)
A49V (p.Ala49Val) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A49V (p.Ala49Val) variant details
- p.Ala49Val
- gnomAD rs1796158675
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available