Q44R (p.Gln44Arg) variant of SERPINE1 (P05121)
Q44R (p.Gln44Arg) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- gnomAD 7-101128524-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.28
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.46
- Population evidence available
- Structural context available
- Literature evidence available