A24G (p.Ala24Gly) variant of RASA1 (Ras GTPase-activating protein 1)
A24G (p.Ala24Gly) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A24G (p.Ala24Gly) variant details
- p.Ala24Gly
- rs1364111237
- ClinGen CA360416722
- ClinVar RCV000756592
- TOPMed rs1364111237
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.94
- PolyPhen-2 0.00
- SIFT 0.19
- MutPred 0.21
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.297