A67T (p.Ala67Thr) variant of SERPINE1 (P05121)
A67T (p.Ala67Thr) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
A67T (p.Ala67Thr) variant details
- p.Ala67Thr
- gnomAD 7-101128592-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.60
- MetaLR 0.64
- MetaSVM 0.31
- CADD 25.40
- PolyPhen-2 0.64
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available