G13S (p.Gly13Ser) variant of SERPINE1 (P05121)
G13S (p.Gly13Ser) in SERPINE1 (P05121) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
G13S (p.Gly13Ser) variant details
- p.Gly13Ser
- ExAC rs763507112
- gnomAD rs763507112
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.37
- CADD 20.60
- PolyPhen-2 0.39
- SIFT 0.40
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available