A6D (p.Ala6Asp) variant of RASA1 (Ras GTPase-activating protein 1)
A6D (p.Ala6Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A6D (p.Ala6Asp) variant details
- p.Ala6Asp
- gnomAD rs1010729751
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.24
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.853