T15R (p.Thr15Arg) variant of RASA1 (Ras GTPase-activating protein 1)
T15R (p.Thr15Arg) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T15R (p.Thr15Arg) variant details
- p.Thr15Arg
- TOPMed rs899638423
- gnomAD rs899638423
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.20
- CADD 22.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.168