A6A (p.Ala6Ala) variant of RASA1 (Ras GTPase-activating protein 1)
A6A (p.Ala6Ala) in RASA1 (Ras GTPase-activating protein 1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6A (p.Ala6Ala) variant details
- p.Ala6Ala
- rs992101983
- gnomAD 5-87268469-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.359
- CADD 14.40
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.853
- Literature evidence available