T73A (p.Thr73Ala) variant of SERPINE1 (P05121)
T73A (p.Thr73Ala) 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 0.18 / 1. The record also includes population frequency data and structural context.
T73A (p.Thr73Ala) variant details
- p.Thr73Ala
- rs374379570
- ClinGen CA4405548
- ClinVar RCV004453371
- ESP rs374379570
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.09
- CADD 13.00
- PolyPhen-2 0.03
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00056)
- Structural context available