T72R (p.Thr72Arg) variant of SERPINE1 (P05121)
T72R (p.Thr72Arg) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T72R (p.Thr72Arg) variant details
- p.Thr72Arg
- gnomAD 7-101128608-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.26
- MetaLR 0.08
- MetaSVM -1.08
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available