R53C (p.Arg53Cys) variant of SERPINE1 (P05121)
R53C (p.Arg53Cys) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R53C (p.Arg53Cys) variant details
- p.Arg53Cys
- rs761039040
- ClinGen CA4405532
- ClinVar RCV004297165
- ExAC rs761039040
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.56
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available