R53G (p.Arg53Gly) variant of SERPINE1 (P05121)
R53G (p.Arg53Gly) in SERPINE1 (P05121) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R53G (p.Arg53Gly) variant details
- p.Arg53Gly
- gnomAD 7-101128550-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.24
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available