R53R (p.Arg53Arg) variant of SERPINE1 (P05121)
R53R (p.Arg53Arg) in SERPINE1 (P05121) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R53R (p.Arg53Arg) variant details
- p.Arg53Arg
- rs2116596471
- gnomAD 7-101128552-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 14.10
- Most common in the HGDP:PIMA population (allele frequency 0.045)
- Structural context available
- Literature evidence available