K37* (p.Lys37Ter) variant of RASA1 (Ras GTPase-activating protein 1)
K37* (p.Lys37Ter) in RASA1 (Ras GTPase-activating protein 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K37* (p.Lys37Ter) variant details
- p.Lys37Ter
- gnomAD 5-87269273-CCCTT-
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 9.79
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score 0.024
- Literature evidence available