G22del (p.Gly22del) variant of RASA1 (Ras GTPase-activating protein 1)
G22del (p.Gly22del) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G22del (p.Gly22del) variant details
- rs749204950
- gnomAD 5-87268511-AGGC-A
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 18.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.102
- Literature evidence available