Q70R (p.Gln70Arg) variant of SERPINE1 (P05121)
Q70R (p.Gln70Arg) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q70R (p.Gln70Arg) variant details
- p.Gln70Arg
- gnomAD 7-101128602-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.39
- MetaLR 0.11
- MetaSVM -1.09
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available