p.Gly22dup variant of RASA1 (Ras GTPase-activating protein 1)
p.Gly22dup in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Gly22dup variant details
- rs1753665591
- gnomAD 5-87268505-T-TGGA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.80
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.102
- Literature evidence available