S50P (p.Ser50Pro) variant of SERPINE1 (P05121)
S50P (p.Ser50Pro) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- gnomAD 7-101128541-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.40
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available