G22A (p.Gly22Ala) variant of RASA1 (Ras GTPase-activating protein 1)
G22A (p.Gly22Ala) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G22A (p.Gly22Ala) variant details
- p.Gly22Ala
- gnomAD 5-87268516-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.12
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.48
- 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