L34P (p.Leu34Pro) variant of SERPINE1 (P05121)
L34P (p.Leu34Pro) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L34P (p.Leu34Pro) variant details
- p.Leu34Pro
- gnomAD 7-101128494-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.22
- CADD 25.30
- PolyPhen-2 0.75
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available